Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Title
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes
Authors
Keywords
-
Journal
JOURNAL OF MEDICAL GENETICS
Volume 49, Issue 8, Pages 502-512
Publisher
BMJ
Online
2012-07-08
DOI
10.1136/jmedgenet-2012-100875

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