TY - JOUR
T1 - Identification of a Novel Mutation (867delA) in the Glucose-6-phosphatase Gene in Two Siblings with Glycogen Storage Disease Type Ia with Different Phenotypes
AU - Rake, Jan Peter
AU - ten Berge, Annelies M.
AU - Visser, Gepke
AU - Verlind, Edwin
AU - Niezen-Koning, Klary E.
AU - Buys, Charles H. C. M.
AU - Smit, G. Peter A.
AU - Scheffer, Hans
PY - 2000/4
Y1 - 2000/4
N2 - 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. Till so far, no evidence for a clear genotype-phenotype correlation has been found. (C) 2000 Wiley-Liss, Inc.
AB - 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. Till so far, no evidence for a clear genotype-phenotype correlation has been found. (C) 2000 Wiley-Liss, Inc.
KW - glycogen storage disease type Ia
KW - GSD Ia
KW - glucose-6-phosphatase
KW - G6Pase
KW - genotype-phenotype correlation
U2 - 10.1002/(SICI)1098-1004(200004)15:4<381::AID-HUMU13>3.0.CO;2-K
DO - 10.1002/(SICI)1098-1004(200004)15:4<381::AID-HUMU13>3.0.CO;2-K
M3 - Article
SN - 1059-7794
VL - 15
SP - 381-U23
JO - Human Mutation
JF - Human Mutation
IS - 4
ER -