Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.

H. H. Seydewitz, D. Matern

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Molecular genetic analysis of 40 patients with glycogen storage disease type Ia (GSD Ia) revealed mutations on all 80 alleles and verified the diagnosis in all patients. At least 7 patients were diagnosed with GSD Ia solely on the basis of clinical findings prior to our analysis. Five mutations, Q20R, W50X, G81R, W156L, and G188D have not been reported so far. This study underscores that molecular genetic analysis is a reliable and convenient alternative to the enzyme assay in a fresh liver biopsy specimen to diagnose GSD Ia.

Original languageEnglish (US)
Pages (from-to)115-116
Number of pages2
JournalHuman Mutation
Volume15
Issue number1
StatePublished - Jan 2000

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Glycogen Storage Disease
Mutation Rate
Molecular Biology
Mutation
Enzyme Assays
Alleles
Biopsy
Liver

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Molecular genetic analysis of 40 patients with glycogen storage disease type Ia : 100% mutation detection rate and 5 novel mutations. / Seydewitz, H. H.; Matern, D.

In: Human Mutation, Vol. 15, No. 1, 01.2000, p. 115-116.

Research output: Contribution to journalArticle

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