Journal of human genetics

• Material Type: 雑誌
• Title: Journal of human genetics
• Volume: 62(5):2017.5
• 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

EDITORIAL : A message for 2017

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy

Detecting disease association with rare variants in case-parents studies