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Ocular manifestations and surgical results in patients with Alport syndrome

✍ Scribed by Göktuğ Seymenoğlu; Esin F. Baser


Book ID
116628342
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
286 KB
Volume
35
Category
Article
ISSN
0886-3350

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Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutation