Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

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作者： Ranjith,Ramasamy ^[1] ; M Emre,Bakırcıoğlu ^[2] ; Cenk,Cengiz ^[1] ; Ender,Karaca ^[3] ; Jason,Scovell ^[4] ; Shalini N,Jhangiani ^[3] ; Zeynep C,Akdemir ^[3] ; Matthew,Bainbridge ^[5] ; Yao,Yu ^[6] ; Chad,Huff ^[6] ; Richard A,Gibbs ^[7] ; James R,Lupski ^[8] ; Dolores J,Lamb ^[9]

作者单位： Scott Department of Urology, Baylor College of Medicine, Houston, Texas; Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas. ^[1] Private practice, Istanbul, Turkey. ^[2] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. ^[3] Scott Department of Urology, Baylor College of Medicine, Houston, Texas. ^[4] Codified Genomics, Houston, Texas. ^[5] Department of Epidemiology, MD Anderson Cancer Center, University of Texas, Houston, Texas. ^[6] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas. ^[7] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Baylor College of Medicine, Houston, Texas. ^[8] Scott Department of Urology, Baylor College of Medicine, Houston, Texas; Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas. Electronic address: dlamb@bcm.edu. ^[9]

关键词 Circadian rhythm consanguineous genome male infertility spermatogenesis