کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8793987 1602775 2018 10 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی چشم پزشکی
پیش نمایش صفحه اول مقاله
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population
چکیده انگلیسی
Our AJ cohort of RP patients is the largest reported to date and showed a substantial difference in the genetic causes of RP compared with cohorts of other populations, mainly a high rate of autosomal recessive inheritance and a unique composition of causative genes. The most common RP-causing genes in our cohort, MAK and DHDDS, were not described as major causative genes in other populations. The clinical data show that in general, patients with biallelic MAK mutations had a later age of onset and a milder retinal phenotype compared with patients with biallelic DHDDS mutations.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Ophthalmology - Volume 125, Issue 5, May 2018, Pages 725-734
نویسندگان
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