Journal of human genetics

• Material Type: 雑誌
• Title: Journal of human genetics
• Volume: 62(2):2017.2
• Author/Editor: Japan Society of Human Genetics
• Author Heading: 日本人類遺伝学会 ニホン ジンルイ イデン ガッカイ ( 00295119 )Authorities; シュプリンガージャパン株式会社 シュプリンガー ジャパン カブシキ ガイシャ ( 01067702 )Authorities; シュプリンガーフェアラーク東京株式会社 シュプリンガー フェアラーク トウキョウ カブシキ ガイシャ ( 01006083 )Authorities
• Publication, Distribution, etc.: Tokyo : Springer Nature
• Publication Date: 2017
• Publication Date (W3CDTF): 2017
• Year and volume of publication: v. 43, no. 1 (1998)-
• Size: 28cm
• ISSN (Periodical Title): 1434-5161
• Place of Publication (Country Code): JP
• Text Language Code: eng
• NDLC: ZS16
• Note (General): Description based on the latest issue; Publisher: Springer-Verlag Tokyo (v. 43, no. 1-v. 51, no. 7) ; Springer Japan (v. 51, no. 8-<v. 53, no. 11/12>) ; Nature Publishing Group (<v. 54, no. 2>-v. 61, no. 7); With suppl
• Holding library: 国立国会図書館
• Call No.: Z54-H248
• Related Material: 区分換; https://ndlsearch.ndl.go.jp/books/R100000002-I028083539
• Replaces: 継続前; https://ndlsearch.ndl.go.jp/books/R100000002-I000000152079
• Data Provider (Database): 国立国会図書館 : 国立国会図書館蔵書; https://ndlsearch.ndl.go.jp
• Bibliographic ID (NDL): 000000159110; http://id.ndl.go.jp/bib/000000159110
• Cataloging Rule: Nippon Cataloguing Rules 1987 Revised Edition

Table of Contents

INPPL1 gene mutations in opsismodysplasia

Role of miRNAs in the pathogenesis and susceptibility of diabetes mellitus

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

Missing genetic variations in GNE myopathy : rearrangement hotspots encompassing 5'UTR and founder allele

Comparative study of idursulfase beta and idursulfase in vitro and in vivo