نتایج جستجو برای: dominant mutation

تعداد نتایج: 404478  

Journal: :Investigative ophthalmology & visual science 2005
Yuko Wada Michael A Sandberg Terri L McGee Melissa A Stillberger Eliot L Berson Thaddeus P Dryja

PURPOSE To determine the frequency of mutations in IMPDH1 among patients with autosomal dominant retinitis pigmentosa (RP), to characterize the clinical features of patients with the Asp226Asn mutation in this gene, and to compare these features with those found among patients with selected dominant mutations in other RP genes. METHODS The coding sequence and the adjacent flanking intron sequ...

Journal: :The Journal of Clinical Endocrinology & Metabolism 2001

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید