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- W2051512522 abstract "Three novel mutations, Q54P, W70X and T108I, 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. Hum Mutat 14:91, 1999. © 1999 Wiley-Liss, Inc." @default.
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- W2051512522 date "1999-01-01" @default.
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- W2051512522 title "Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia" @default.
- W2051512522 doi "https://doi.org/10.1002/(sici)1098-1004(1999)14:1<91::aid-humu21>3.0.co;2-b" @default.
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