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

Title
Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 49, Issue 5, Pages 317-321
Publisher
BMJ
Online
2012-04-18
DOI
10.1136/jmedgenet-2012-100737

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