Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1996.tb03783.x/fullpdf
Reference30 articles.
1. A strategy to reveal high-frequency RFLPs along the human X chromosome;Aldridge;Am J Hum Genet,1984
2. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines;Anderson;In Vitro,1984
3. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction;Beggs;Hum Genet,1990
4. Fabry disease: six gene rearrangements and an exonic point mutation in the α-galactosidase gene;Bernstein;J Clin Invest,1989
5. Structural organization of the human α-galactosidase A gene: further evidence for the absence of a 3′ untranslated region;Bishop;Proc Natl Acad Sci USA,1988a
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1. Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature;Heliyon;2024-04
2. Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1;Frontiers in Pediatrics;2021-02-26
3. Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders;Clinical Genetics;2016-07-29
4. Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis;Brain and Development;1997-03
5. Two novel mutations in the α-galactosidase gene in Japanese classical hemizygotes with Fabry disease;Japanese journal of human genetics;1996-09
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