Association of Pathogenic Mutations in <emph type="ital">TULP1</emph> With Retinitis Pigmentosa in Consanguineous Pakistani Families
نویسندگان
چکیده
منابع مشابه
Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.
OBJECTIVE To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa in 5 consanguineous Pakistani families. METHODS Affected individuals in the families underwent a detailed ophthalmological examination that consisted of fundus photography and electroretinography. Blood samples were collected from all participating family members, and genomic DNA was extracted....
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2011
ISSN: 0003-9950
DOI: 10.1001/archophthalmol.2011.267