Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

标题
Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume 49, Issue 5, Pages 317-321
出版商
BMJ
发表日期
2012-04-18
DOI
10.1136/jmedgenet-2012-100737

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