Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases

Published 2011 View Full Article

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Title
Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases
Authors
Keywords
-
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 105, Issue 2, Pages 270-271
Publisher
Elsevier BV
Online
2011-11-08
DOI
10.1016/j.ymgme.2011.10.019

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