The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Heredity

• Publication date

  2010-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/hdy.2009.84PMID 19639008
• 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.

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  2005cited by this paper
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  2004cited by this paper
• A comparison of bayesian methods for haplotype reconstruction from population genotype data.

  2003influential reference
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  2003influential reference
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• A new statistical method for haplotype reconstruction from population data.

  2001influential reference
• Genetics and the population history of Europe.

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  2001influential reference
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  2000cited by this paper
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  1999cited by this paper
• Median-joining networks for inferring intraspecific phylogenies.

  1999cited by this paper
• DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis

  1999cited by this paper
• Presence of a deletion in the 5′ upstream region of the GALT gene in Duarte (D2) alleles

  1999cited by this paper
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  1999cited by this paper
• An empirical exploration of the (delta mu)2 genetic distance for 213 human microsatellite markers.

  1999cited by this paper
• Classical galactosemia and mutations at the galactose‐1‐phosphate uridyl transferase (GALT) gene

  1999influential reference
• Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients

  1999cited by this paper
• Estimating the age of alleles by use of intraallelic variability.

  1997influential reference
• Molecular heterogeneity of classical and duarte galactosemia: Mutation analysis by denaturing gradient gel electrophoresis

  1997cited by this paper
• Molecular characterization of galactosemia (Type 1)mutations in Japanese

  1995influential reference
• Genetic absolute dating based on microsatellites and the origin of modern humans.

  1995influential reference
• Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

  1995cited by this paper
• A common mutation associated with the Duarte galactosemia allele.

  1994cited by this paper
• Biochemical and molecular studies of 132 patients with galactosemia

  1994influential reference
• Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

  1991cited by this paper

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  2021cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2019cites this paper
• Hereditary galactosemia.

  2018cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
• The molecular basis of galactosemia - Past, present and future.

  2016cites this paper
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  2015cites this paper
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  2014influential citation
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  2014cites this paper
• Disorders of Carbohydrate Metabolism

  2012cites this paper
• Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? *

  2011cites this paper
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  2011cites this paper
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  2010cites this paper
• Inherited metabolic rare disease.

  2010cites this paper