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Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
- Source :
-
Human mutation [Hum Mutat] 2000 Apr; Vol. 15 (4), pp. 381. - Publication Year :
- 2000
-
Abstract
- We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterogeneity in phenotype is observed. So far, no evidence for a clear genotype-phenotype correlation has been found. Hum Mutat 15:381, 2000.<br /> (Copyright 2000 Wiley-Liss, Inc.)
Details
- Language :
- English
- ISSN :
- 1098-1004
- Volume :
- 15
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Human mutation
- Publication Type :
- Academic Journal
- Accession number :
- 10737986
- Full Text :
- https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<381::AID-HUMU13>3.0.CO;2-K