Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online

Three novel mutations, Q54P, W70X and T1081, were identified in the gene encoding glucose-6-phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, wa...

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Bibliographic Details
Published in:Human mutation 1999, Vol.14 (1), p.91-91
Main Authors: Trioche, P, Francoual, J, Chalas, J, Capel, L, Bernard, O, Labrune, P
Format: Article
Language:English
Subjects:
Glucose-6-Phosphatase - genetics
Glycogen Storage Disease Type I - enzymology
Glycogen Storage Disease Type I - genetics
Humans
Mutation
Online Access:Get full text
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Summary:Three novel mutations, Q54P, W70X and T1081, were identified in the gene encoding glucose-6-phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was a compound heterozygote for the W70X and T108I mutations. Glycogen storage disease type Ia is a heterogeneous autosomal recessive condition.
ISSN:1059-7794
DOI:10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU21>3.0.CO;2-B