Literature DB >> 11286390

Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.

J Rudolfová1, R Slovácková, M Trbusek, K Pesková, S St'astná, L Kozák.   

Abstract

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Year:  2001        PMID： 11286390     DOI： 10.1023/a:1005635629149

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

1.  cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.

Authors:  J J Davidson; T Ozçelik; C Hamacher; P J Willems; U Francke; M W Kilimann
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-15       Impact factor: 11.205

2.  cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit).

Authors:  N F Zander; H E Meyer; E Hoffmann-Posorske; J W Crabb; L M Heilmeyer; M W Kilimann
Journal:  Proc Natl Acad Sci U S A       Date:  1988-05       Impact factor: 11.205

3.  Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.

Authors:  P J Willems; J Hendrickx; B J Van der Auwera; L Vits; P Raeymaekers; P J Coucke; I Van den Bergh; R Berger; G P Smit; C Van Broeckhoven
Journal:  Genomics       Date:  1991-04       Impact factor: 5.736

4.  Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.

Authors:  J Hendrickx; P Lee; J P Keating; D Carton; I B Sardharwalla; M Tuchman; C Baussan; P J Willems
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

5.  Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.

Authors:  U Francke; B T Darras; N F Zander; M W Kilimann
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025
  5 in total
  2 in total

1.  Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.

Authors:  Jung Ah Kim; Ja Hye Kim; Beom Hee Lee; Gu-Hwan Kim; Yoon S Shin; Han-Wook Yoo; Kyung Mo Kim
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2015-06-29

2.  Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Authors:  Fernanda Sperb-Ludwig; Franciele Cabral Pinheiro; Malu Bettio Soares; Tatiele Nalin; Erlane Marques Ribeiro; Carlos Eduardo Steiner; Eugênia Ribeiro Valadares; Gilda Porta; Carolina Fishinger Moura de Souza; Ida Vanessa Doederlein Schwartz
Journal:  Mol Genet Genomic Med       Date:  2019-09-11       Impact factor: 2.183
  2 in total

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