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Your search keyword '"Rake, J. P."' showing total 2 results
Start Over Author "Rake, J. P." Publisher wiley-liss
2 results on '"Rake, J. P."'

1. Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.

Author

Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, Smit GP, and Scheffer H

Subjects
Adult, Exons genetics, Female, Genotype, Humans, Male, Nuclear Family, Phenotype, Polymorphism, Single-Stranded Conformational, Frameshift Mutation, Glucose-6-Phosphatase genetics, Glycogen Storage Disease enzymology, Glycogen Storage Disease genetics
Abstract

We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterogeneity in phenotype is observed. So far, no evidence for a clear genotype-phenotype correlation has been found. Hum Mutat 15:381, 2000., (Copyright 2000 Wiley-Liss, Inc.)

Published
2000
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2. Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.

Author

Rake JP, ten Berge AM, Verlind E, Visser G, Niezen-Koning KE, Buys CH, Smit GP, and Scheffer H

Subjects
Glucose-6-Phosphatase genetics, Glycogen Storage Disease Type I enzymology, Humans, Sequence Deletion, Amino Acid Substitution genetics, Glycogen Storage Disease Type I genetics, Mutation genetics
Abstract

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.

Published
1999
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