Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia

Masaki Takagi; Mika Shimizu; Eri Suzuki; Hiroyuki Shinohara; Satoshi Narumi; Tomonobu Hasegawa; Gen Nishimura; Yukihiro Hasegawa

doi:10.1002/ajmg.a.37481

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia

Masaki Takagi, Mika Shimizu, Eri Suzuki, Hiroyuki Shinohara, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Yukihiro Hasegawa

小児科学

研究成果: Article › 査読

2 被引用数 (Scopus)

本文言語	English
ページ（範囲）	795-798
ページ数	4
ジャーナル	American Journal of Medical Genetics, Part A
巻	170
号	3
DOI	https://doi.org/10.1002/ajmg.a.37481
出版ステータス	Published - 2016 3 1

ASJC Scopus subject areas

遺伝学
遺伝学（臨床）

文献へのアクセス

10.1002/ajmg.a.37481

他のファイルとリンク

引用スタイル

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia. / Takagi, Masaki; Shimizu, Mika; Suzuki, Eri; Shinohara, Hiroyuki; Narumi, Satoshi; Hasegawa, Tomonobu; Nishimura, Gen; Hasegawa, Yukihiro.

In: American Journal of Medical Genetics, Part A, Vol. 170, No. 3, 01.03.2016, p. 795-798.

研究成果: Article › 査読

Takagi, Masaki ; Shimizu, Mika ; Suzuki, Eri ; Shinohara, Hiroyuki ; Narumi, Satoshi ; Hasegawa, Tomonobu ; Nishimura, Gen ; Hasegawa, Yukihiro. / Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia. In: American Journal of Medical Genetics, Part A. 2016 ; Vol. 170, No. 3. pp. 795-798.

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