A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly

Masaki Takagi; Masanori Kouwaki; Koya Kawase; Hiroyuki Shinohara; Yukihiro Hasegawa; Takahiro Yamada; Ikuma Fujiwara; Hideaki Sawai; Gen Nishimura; Tomonobu Hasegawa

doi:10.1002/ajmg.a.37231

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly

Masaki Takagi, Masanori Kouwaki, Koya Kawase, Hiroyuki Shinohara, Yukihiro Hasegawa, Takahiro Yamada, Ikuma Fujiwara, Hideaki Sawai, Gen Nishimura, Tomonobu Hasegawa

School of Medicine

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

8 Citations (Scopus)

Original language	English
Pages (from-to)	2851-2854
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	167
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.37231
Publication status	Published - 2015 Nov

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.37231

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@article{583b7ebf033b42b7b3fe6b827c48703d,

title = "A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly",

author = "Masaki Takagi and Masanori Kouwaki and Koya Kawase and Hiroyuki Shinohara and Yukihiro Hasegawa and Takahiro Yamada and Ikuma Fujiwara and Hideaki Sawai and Gen Nishimura and Tomonobu Hasegawa",

year = "2015",

month = nov,

doi = "10.1002/ajmg.a.37231",

language = "English",

volume = "167",

pages = "2851--2854",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "11",

}

TY - JOUR

T1 - A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly

AU - Takagi, Masaki

AU - Kouwaki, Masanori

AU - Kawase, Koya

AU - Shinohara, Hiroyuki

AU - Hasegawa, Yukihiro

AU - Yamada, Takahiro

AU - Fujiwara, Ikuma

AU - Sawai, Hideaki

AU - Nishimura, Gen

AU - Hasegawa, Tomonobu

PY - 2015/11

Y1 - 2015/11

UR - http://www.scopus.com/inward/record.url?scp=84945451912&partnerID=8YFLogxK

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U2 - 10.1002/ajmg.a.37231

DO - 10.1002/ajmg.a.37231

M3 - Letter

C2 - 26126848

AN - SCOPUS:84945451912

SN - 1552-4825

VL - 167

SP - 2851

EP - 2854

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly

ASJC Scopus subject areas

Access to Document

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