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

Research output: Contribution to journalArticle

4 Citations (Scopus)
Original languageEnglish
Pages (from-to)2851-2854
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number11
DOIs
Publication statusPublished - 2015 Nov 1

Fingerprint

Molecular Sequence Data
Receptor, Fibroblast Growth Factor, Type 3
Developmental Bone Disease
Achondroplasia
Preschool Children
Amino Acid Substitution
Amino Acid Sequence
Newborn Infant
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. / Takagi, Masaki; Kouwaki, Masanori; Kawase, Koya; Shinohara, Hiroyuki; Hasegawa, Yukihiro; Yamada, Takahiro; Fujiwara, Ikuma; Sawai, Hideaki; Nishimura, Gen; Hasegawa, Tomonobu.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 11, 01.11.2015, p. 2851-2854.

Research output: Contribution to journalArticle

Takagi, M, Kouwaki, M, Kawase, K, Shinohara, H, Hasegawa, Y, Yamada, T, Fujiwara, I, Sawai, H, Nishimura, G & Hasegawa, T 2015, 'A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly', American Journal of Medical Genetics, Part A, vol. 167, no. 11, pp. 2851-2854. https://doi.org/10.1002/ajmg.a.37231
Takagi, Masaki ; Kouwaki, Masanori ; Kawase, Koya ; Shinohara, Hiroyuki ; Hasegawa, Yukihiro ; Yamada, Takahiro ; Fujiwara, Ikuma ; Sawai, Hideaki ; Nishimura, Gen ; Hasegawa, Tomonobu. / A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 11. pp. 2851-2854.
@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 = "11",
day = "1",
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 - 2015/11/1

Y1 - 2015/11/1

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

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

U2 - 10.1002/ajmg.a.37231

DO - 10.1002/ajmg.a.37231

M3 - Article

VL - 167

SP - 2851

EP - 2854

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 11

ER -