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Non-syndromic early-onset cone-rod dystrophy and limb-girdle muscular dystrophy in a consanguineous Israeli family are caused by two independent yet linked mutations in ALMS1 and DYSF

Genetic analysis of clinical phenotypes in consanguineous families is complicated by co-inheritance of large DNA regions carrying independent variants. Here we characterized a family with early onset cone-rod dystrophy (CRD) and muscular dystrophy. Homozygosity mapping followed by whole exome sequen...

詳細記述

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書誌詳細
出版年:Hum Mutat
主要な著者: Lazar, Csilla H., Kimchi, Adva, Namburi, Prasanthi, Mutsuddi, Mousumi, Zelinger, Lina, Beryozkin, Avigail, Ben-Simhon, Shiran, Obolensky, Alexey, Ben-Neriah, Ziva, Argov, Zohar, Pikarsky, Eli, Fellig, Yakov, Marks-Ohana, Devorah, Ratnapriya, Rinki, Banin, Eyal, Sharon, Dror, Swaroop, Anand
フォーマット: Artigo
言語:Inglês
出版事項: 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4537390/
https://ncbi.nlm.nih.gov/pubmed/26077327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22822
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