Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X-Linked Liver Glycogenosis Type I and II-Reference-Cited by-同舟云学术

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Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X-Linked Liver Glycogenosis Type I and II

Published:1999-06 Issue:6 Volume:64 Page:1541-1549
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Hendrickx Jan,Lee Philip,Keating James P.,Carton Dietbrand,Sardharwalla Imdadali B.,Tuchman Mendel,Baussan Christiane,Willems Patrick J.

Funder

Universiteit Antwerpen

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference36 articles.

1. Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes;Bakker;J Inherit Metab Dis,1991

2. High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridisation;Blonden;Nucleic Acid Res,1989

3. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene;Burwinkel;Hum Genet,1998

4. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2);Burwinkel;Hum Mol Genet,1996

5. The molecular basis of skeletal muscle phosphorylase kinase deficiency;Cohen;Eur J Biochem,1976

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