Ocular findings in 34 patients with Alport syndrome, correlation of the findings to mutations in COL4A5 gene
نویسندگان
چکیده
منابع مشابه
X-linked Alport syndrome caused by splicing mutations in COL4A5.
BACKGROUND AND OBJECTIVES X-linked Alport syndrome is caused by mutations in the COL4A5 gene. Although many COL4A5 mutations have been detected, the mutation detection rate has been unsatisfactory. Some men with X-linked Alport syndrome show a relatively mild phenotype, but molecular basis investigations have rarely been conducted to clarify the underlying mechanism. DESIGN, SETTING, PARTICIP...
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Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine polymerase chain reaction (PCR)-based approaches. Here, in order to design a rapid and effective method fo...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica Scandinavica
سال: 1999
ISSN: 1395-3907
DOI: 10.1034/j.1600-0420.1999.770220.x