Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

Yuka Wada, Gen Nishimura, Toshiro Nagai, Hideaki Sawai, Mayumi Yoshikata, Shinichirou Miyagawa, Takushi Hanita, Seiji Sato, Tomonobu Hasegawa, Shumpei Ishikawa, Tsutomu Ogata

Research output: Contribution to journalArticle

11 Citations (Scopus)
Original languageEnglish
Pages (from-to)2882-2885
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number12
DOIs
Publication statusPublished - 2009 Dec

Fingerprint

DNA Mutational Analysis
SOX9 Transcription Factor
Campomelic Dysplasia
Molecular Sequence Data
DNA Copy Number Variations
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. / Wada, Yuka; Nishimura, Gen; Nagai, Toshiro; Sawai, Hideaki; Yoshikata, Mayumi; Miyagawa, Shinichirou; Hanita, Takushi; Sato, Seiji; Hasegawa, Tomonobu; Ishikawa, Shumpei; Ogata, Tsutomu.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 12, 12.2009, p. 2882-2885.

Research output: Contribution to journalArticle

Wada, Yuka ; Nishimura, Gen ; Nagai, Toshiro ; Sawai, Hideaki ; Yoshikata, Mayumi ; Miyagawa, Shinichirou ; Hanita, Takushi ; Sato, Seiji ; Hasegawa, Tomonobu ; Ishikawa, Shumpei ; Ogata, Tsutomu. / Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. In: American Journal of Medical Genetics, Part A. 2009 ; Vol. 149, No. 12. pp. 2882-2885.
@article{8f09fbfda9ac4bbda2b77d21c33438bd,
title = "Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia",
author = "Yuka Wada and Gen Nishimura and Toshiro Nagai and Hideaki Sawai and Mayumi Yoshikata and Shinichirou Miyagawa and Takushi Hanita and Seiji Sato and Tomonobu Hasegawa and Shumpei Ishikawa and Tsutomu Ogata",
year = "2009",
month = "12",
doi = "10.1002/ajmg.a.33107",
language = "English",
volume = "149",
pages = "2882--2885",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "12",

}

TY - JOUR

T1 - Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

AU - Wada, Yuka

AU - Nishimura, Gen

AU - Nagai, Toshiro

AU - Sawai, Hideaki

AU - Yoshikata, Mayumi

AU - Miyagawa, Shinichirou

AU - Hanita, Takushi

AU - Sato, Seiji

AU - Hasegawa, Tomonobu

AU - Ishikawa, Shumpei

AU - Ogata, Tsutomu

PY - 2009/12

Y1 - 2009/12

UR - http://www.scopus.com/inward/record.url?scp=71949122477&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=71949122477&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.33107

DO - 10.1002/ajmg.a.33107

M3 - Article

VL - 149

SP - 2882

EP - 2885

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 12

ER -