Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified

Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified

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 G...

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Veröffentlicht in:Human mutation 1999, Vol.13 (2), p.173-173
Hauptverfasser: Rake, Jan Peter, ten Berge, Annelies M., Verlind, Edwin, Visser, Gepke, Niezen-Koning, Klary E., Buys, Charles H.C.M., Smit, G. Peter A., Scheffer, Hans
Format: Artikel
Sprache:eng
Schlagworte:
diagnosis
DNA-mutational analysis
genetics
glucose-6-phosphatase
Glycogen storage disease type Ia
sequencing
single strand conformation polymorphism
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Zusammenfassung: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.
ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU19>3.0.CO;2-E