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雑誌Journal of human genetics
Volume number58(7)-58(12):2013.7-2013.12
ArticleA large co...

A large cohort of myotonia congenita probands : novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

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A large cohort of myotonia congenita probands : novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

Call No. (NDL)
Z54-H248
Bibliographic ID of National Diet Library
024854534
Material type
記事
Author
Raffaella Brugnoniほか
Publisher
Tokyo : Springer Nature
Publication date
2013-09
Material Format
Paper
Journal name
Journal of human genetics / Japan Society of Human Genetics 58(9):2013.9
Publication Page
p.581-587
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Paper

Material Type
記事
Title
A large cohort of myotonia congenita probands : novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
Author/Editor
Raffaella Brugnoni
Dimos Kapetis
Paola Imbrici 他
Author Heading
Raffaella Brugnoni
Dimos Kapetis
Paola Imbrici
Periodical title
Journal of human genetics / Japan Society of Human Genetics
No. or year of volume/issue
58(9):2013.9
Volume
58
Issue
9
Pages
581-587
Publication date of volume/issue (W3CDTF)
2013-09