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A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism
Human Mutation, 06/25/09
Qiao J et al. - The splice-acceptor mutation resulted in abnormal splicing of LHCGR mRNA, skipping exon 7. This report expands the genotypic spectrum of LHCGR mutations, with relevant implications for the molecular analysis of this gene.
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