Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis Type I and II
Article Abstract:
The genomic structure and mutations of the gene PHKA2, which encodes the alpha subunit of phosphorylase kinase, have been studied. Mutations in the PHKA2 gene are associated with both subtypes of X-linked liver glycogenosis (XLG). Five new mutations associated with XLG I were found, along with one new mutation for XLG II and one associated with both forms of XLG. Differences in the kinds of disease-causing mutations may account for the biochemical differences between XLG I and II.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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Mutations in Btk in patients with presumed X-linked agammaglobulinemia
Article Abstract:
Mutations in Btk, a tyrosine kinase, have been found in 90%-95% of males with presumed X-linked agammaglobulinemia (XLA). Other genetic defects probably account for the remaining 5%-10% of patients. A study was conducted involving 101 families in which males were diagnosed with XLA. Of 40 families with more than one affected member, 38 had mutations in Btk, and of 61 families with sporadic disease, 56 had Btk mutations.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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LOD scores, location scores, and X-linked cone dystrophy
Article Abstract:
Some serious problems have been discovered in the data presented by A.A.B. Bergen and A.J.L.G. Pinckers on X-linked progressive cone dystrophy. The LOD scores for the family showing linkage appear to be incorrect. The multipoint analysis LOD score should not be so much larger than the two-point LOD scores. In addition, the mapping of the locus to Xq27 is not definite.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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