Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscula...
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan
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England: Nature Publishing Group
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English
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Publisher
England: Nature Publishing Group
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Contents
Fukuyama congenital muscular dystrophy (FCMD), which is caused by mutations in the fukutin gene, is the second most common form of childhood muscular dystrophy in Japan. The founder haplotype is the most prevalent in the chromosomes of Japanese FCMD patients, and corresponds to an SVA retrotransposal insertion in the 3'-untranslated region of fukut...
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Full title
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan
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TN_cdi_proquest_miscellaneous_1916708768
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1916708768
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2017.71
