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

Research output: Contribution to journalArticle

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)795-798
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number3
DOIs
Publication statusPublished - 2016 Mar 1

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DNA Mutational Analysis
Osteochondrodysplasias
Exome
Dominant Genes
High-Throughput Nucleotide Sequencing
Collagen Type II
Amino Acid Substitution
Codon
Alleles
Bone and Bones
Mutation
Brachyolmia Type 3

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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.

Research output: Contribution to journalArticle

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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