Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling

Journal name: Journal of human genetics / Japan Society of Human Genetics 56(1) 2011.1

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Material Type: 記事
Title: Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling
Author/Editor: Loreto Martorell
Maria T. Nascimento
Roser Colome 他
Author Heading: Loreto Martorell
Maria T. Nascimento
Roser Colome
Periodical title: Journal of human genetics / Japan Society of Human Genetics
No. or year of volume/issue: 56(1) 2011.1
Volume: 56
Issue: 1
Pages: 87～90
Publication date of volume/issue (W3CDTF): 2011-01
ISSN (Periodical Title): 1434-5161
Publication (Periodical Title): Tokyo : Springer Nature
Place of Publication (Country Code): JP
Text Language Code: eng
Subject Heading: compound heterozygote
fragile X syndrome
full mutation
mental retardation
premutation
X-inactivation
NDLC: ZS16
Target Audience: 一般
Holding library: 国立国会図書館
Call No.: Z54-H248
Data Provider (Database): 国立国会図書館 : 国立国会図書館雑誌記事索引
https://ndlsearch.ndl.go.jp
Bibliographic ID (NDL): 10942789
http://id.ndl.go.jp/bib/10942789
Bibliographic Record Category (NDL): 632