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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
Author(s) -
Trioche Pascale,
Francoual Jeanne,
Chalas Jacqueline,
Capel Liliane,
Bernard Olivier,
Labrune Philippe
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)14:1<91::aid-humu21>3.0.co;2-b
Subject(s) - biology , glycogen storage disease , gene , glucose 6 phosphatase , genetics , identification (biology) , glycogen storage disease type i , disease , mutation , phosphatase , glycogen , enzyme , biochemistry , medicine , phosphorylation , botany
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.