Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

No abstract is available for this paper.

• Publication year

  1995

• Venue

  Nature Genetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/NG0995-96PMID 7550325
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Localization of serum biotinidase (BTD) to human chromosome 3 in band p25.

  1994cited by this paper
• Human serum biotinidase. cDNA cloning, sequence, and characterization.

  1994cited by this paper
• Current protocols in human genetics

  1994cited by this paper
• Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity.

  1992cited by this paper
• Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency.

  1992cited by this paper
• Worldwide survey of neonatal screening for biotinidase deficiency

  1991cited by this paper
• Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR.

  1991cited by this paper
• An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

  1990cited by this paper
• Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

  1989cited by this paper
• Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

  1989cited by this paper
• A routine method for the establishment of permanent growing lymphoblastoid cell lines

  1986cited by this paper
• Biotinidase deficiency: Initial clinical features and rapid diagnosis

  1985cited by this paper
• Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

  1985cited by this paper
• Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.

  1983cited by this paper
• Phenotypic variation in biotinidase deficiency.

  1983cited by this paper
• The biotin-dependent carboxylase deficiencies.

  1982cited by this paper
• PATHOLOGICAL CHANGES FOLLOWING EXPERIMENTAL OBSTRUCTION OF THE COMMON BILE DUCT, HEPATIC BILE DUCT AND HEPATIC ARTERY IN THE SHEEP AND THEIR RELATION TO FACIAL ECZEMA.

  1965cited by this paper
• Animal biotinidase.

  1965cited by this paper
• MUTATION IN BRIEF

  year unknowncited by this paper

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  2024cites this paper
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  2023cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2017cites this paper
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  2016cites this paper
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  2016cites this paper
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  2015cites this paper
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  2015cites this paper
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  2014cites this paper
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  2014cites this paper
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  2014cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
• Clinical utility gene card for: Biotinidase deficiency

  2012cites this paper
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  2012cites this paper
• Technical standards and guidelines for the diagnosis of biotinidase deficiency

  2010cites this paper
• The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

  2010cites this paper
• Biotinidase deficiency with hypertonia as unusual feature.

  2009cites this paper
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  2009cites this paper
• Biotin-Responsive Basal Ganglia Disease: Case Report and Review of the Literature

  2008cites this paper
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  2008cites this paper
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  2006cites this paper
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  2006cites this paper
• Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases

  2005cites this paper
• Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result

  2005cites this paper
• Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates

  2005cites this paper
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  2005cites this paper
• Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.

  2004cites this paper
• Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase.

  2004cites this paper
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  2004cites this paper
• Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.

  2003cites this paper
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  2003cites this paper
• Genetics of Auditory Disorders

  2002cites this paper
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  2002cites this paper
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  2002cites this paper
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  2002cites this paper
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  2002cites this paper
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  2002cites this paper
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  2001cites this paper
• Mutations in BTD causing biotinidase deficiency

  2001cites this paper
• [Recent aspects of the genetics of epilepsy].

  2000cites this paper
• Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

  2000cites this paper
• Novel mutations cause biotinidase deficiency in Turkish children

  2000cites this paper
• Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase.

  2000cites this paper
• Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations

  1999cites this paper
• Progress in Epilepsy Research Recent Advances in the Genetics of Epilepsy: Insights from Human and Animal Studies

  1999cites this paper
• Mutations Causing Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States Occur at Different Frequencies than in Symptomatic Children

  1999cites this paper
• Recent Advances in the Genetics of Epilepsy: Insights from Human and Animal Studies

  1999cites this paper
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  1999cites this paper
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  1998cites this paper
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  1998cites this paper
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  1998cites this paper
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  1998influential citation
• Structure of the human biotinidase gene

  1998cites this paper
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  1998cites this paper
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  1998cites this paper
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  1998cites this paper
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  1997cites this paper
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  1997cites this paper
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  1997cites this paper
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  1997cites this paper
• Late presentation of biotinidase deficiency with acute visual loss and gait disturbance

  1997cites this paper
• Profound biotinidase deficiency in two asymptomatic adults.

  1997cites this paper
• Mutations in the Human Biotinidase Gene That Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical, and Clinical Analysis

  1997cites this paper
• Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.

  1996cites this paper
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  1996cites this paper
• Biotinidase and its roles in biotin metabolism.

  1996cites this paper
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  1996cites this paper
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  1995cites this paper