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Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia

✍ Scribed by Pascale Trioche; Jeanne Francoual; Jacqueline Chalas; Liliane Capel; Olivier Bernard; Philippe Labrune

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 10 KB
Volume: 14
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1999)14:1<91::aid-humu21>3.0.co;2-b

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✦ Synopsis

Three novel mutations, Q54P, W70X and T108I, were identified in the gene encoding glucose-6phosphatase 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.

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