Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Human Mutation

• Publication date

  2001-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/HUMU.3PMID 11241840
• 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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  1997cited by this paper
• Rett's Syndrome: Prevalence and Impact on Progressive Severe Mental Retardation in Girls

  1985cited by this paper
• The clinical pattern of the Rett syndrome.

  1985cited by this paper
• Rett syndrome: Criteria for inclusion and exclusion

  1985cited by this paper
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  1985cited by this paper
• A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

  1983cited by this paper
• [On a unusual brain atrophy syndrome in hyperammonemia in childhood].

  1966cited by this paper

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• Suppression of Nonsense Mutations in Rett Syndrome by Aminoglycoside Antibiotics

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• Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

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• Indication for genetic testing: a checklist for Rett syndrome.

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  2002cites this paper
• [Clinical and molecular genetic findings in four girls with Rett syndrome].

  2002cites this paper
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  2002cites this paper
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  2001cites this paper