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Article

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

American journal of medical genetics. Part A - 1 Mar 2016

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

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26586363
DOI: 10.1002/ajmg.a.37481

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Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.PMID 26586363Read ↗

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