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Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified
Author(s) -
Rake Jan Peter,
ten Berge Annelies M.,
Verlind Edwin,
Visser Gepke,
NiezenKoning Klary E.,
Buys Charles H.C.M.,
Smit G. Peter A.,
Scheffer Hans
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)13:2<173::aid-humu19>3.0.co;2-e
Subject(s) - biology , single strand conformation polymorphism , glycogen storage disease , exon , genetics , gene , glycogen storage disease type i , glucose 6 phosphatase , allele , mutation , microbiology and biotechnology , glycogen , enzyme , biochemistry
Deficient activity of glucose‐6‐phosphatase (G6Pase) causes glycogen storage disease type Ia (GSD Ia). We analysed the G6Pase gene of 16 GSD Ia patients using single strand conformation polymorphism (SSCP) analysis prior to automated sequencing of exon(s) revealing an aberrant SSCP pattern. In all GSD Ia patients we were able to identify mutations on both alleles of the G6Pase gene, indicating that this method is a reliable procedure to identify mutations. Four novel mutations (175delGG, R170X, G266V and V338F) were identified. © 1998 Wiley‐Liss, Inc.