Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

Tohru Matsuura; Tatsuaki Kurosaki; Yoshio Omote; Narihiro Minami; Yukiko K. Hayashi; Ichizo Nishino; Koji Abe

doi:10.1038/jhg.2013.33

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

Tohru Matsuura
, Tatsuaki Kurosaki
, Yoshio Omote
, Narihiro Minami
, Yukiko K. Hayashi
, Ichizo Nishino
, Koji Abe

Biotechnical and Clinical Laboratory Sciences

Okayama University
National Center of Neurology and Psychiatry Kodaira

Research output: Contribution to journal › Letter › peer-review

3 Scopus citations

Original language	English
Pages (from-to)	564-565
Number of pages	2
Journal	Journal of Human Genetics
Volume	58
Issue number	8
DOIs	https://doi.org/10.1038/jhg.2013.33
State	Published - Aug 2013

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10.1038/jhg.2013.33

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title = "Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy",

author = "Tohru Matsuura and Tatsuaki Kurosaki and Yoshio Omote and Narihiro Minami and Hayashi, \{Yukiko K.\} and Ichizo Nishino and Koji Abe",

year = "2013",

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doi = "10.1038/jhg.2013.33",

language = "English",

volume = "58",

pages = "564--565",

journal = "Journal of Human Genetics",

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T1 - Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

AU - Matsuura, Tohru

AU - Kurosaki, Tatsuaki

AU - Omote, Yoshio

AU - Minami, Narihiro

AU - Hayashi, Yukiko K.

AU - Nishino, Ichizo

AU - Abe, Koji

PY - 2013/8

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UR - https://www.scopus.com/pages/publications/84882846603

U2 - 10.1038/jhg.2013.33

DO - 10.1038/jhg.2013.33

M3 - Letter

C2 - 23677060

AN - SCOPUS:84882846603

SN - 1434-5161

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EP - 565

JO - Journal of Human Genetics

JF - Journal of Human Genetics

IS - 8

ER -

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

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