Article
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
Human reproduction (Oxford, England) - 1 Dec 2016
Amiri-Yekta Amir, Coutton Charles, Kherraf Zine-Eddine, Karaouzène Thomas, Le Tanno Pauline, Sanati Mohammad Hossein, Sabbaghian Marjan, Almadani Navid, Sadighi Gilani Mohammad Ali, Hosseini Seyedeh Hanieh, Bahrami Salahadin, Daneshipour Abbas, Bini Maurizio, Arnoult Christophe, Colombo Roberto, Gourabi Hamid, Ray Pierre F
Abstract excerpt
STUDY QUESTION: Can whole-exome sequencing (WES) of patients with multiple morphological abnormalities of the sperm flagella (MMAF) identify causal mutations in new genes or mutations in the previously identified dynein axonemal heavy chain 1 (DNAH1) gene? SUMMARY ANSWER: WES for six families with men affected by MMAF syndrome allowed the identification of DNAH1 mutations in four affected men distributed in two...
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