Article
CATSPER2, a human autosomal nonsyndromic male infertility gene.
European journal of human genetics : EJHG - 1 Jul 2003
Avidan Nili, Tamary Hannah, Dgany Orly, Cattan Daniel, Pariente Alexandre, Thulliez Michel, Borot Nicolas, Moati Lucien, Barthelme Alain, Shalmon Lea, Krasnov Tatyana, Ben-Asher Edna, Olender Tsvyia, Khen Miriam, Yaniv Issac, Zaizov Rina, Shalev Hanna, Delaunay Jean, Fellous Marc, Lancet Doron, Beckmann Jacques S
Abstract excerpt
In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI. Two of his brothers had a similar phenotype. All three siblings were homozygous carriers of the CDA1 mutation as well as of a distally...
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