Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

Title
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 31, Issue 8, Pages 918-923
Publisher
Wiley
Online
2010-06-02
DOI
10.1002/humu.21293

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