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Article

Mutant ZP1 in Familial Infertility

26 Mar 2014

Abstract excerpt

The human zona pellucida is composed of four glycoproteins (ZP1, ZP2, ZP3, and ZP4) and has an important role in reproduction. Here we describe a form of infertility with an autosomal recessive mode of inheritance, characterized by abnormal eggs that lack a zona pellucida. We identified a homozygous frameshift mutation in ZP1 in six family members. In vitro studies showed that defective ZP1 proteins and normal...

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Identifiers

PMID: 24670168
DOI: 10.1056/nejmoa1308851

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Mutant ZP1 in Familial InfertilityPMID 24670168Read ↗

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