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Determination of the Genomic Structure of the COL4A4 Gene and of Novel Mutations Causing Autosomal Recessive Alport Syndrome

✍ Scribed by Eileen Boye; Géraldine Mollet; Lionel Forestier; Lola Cohen-Solal; Laurence Heidet; Pierre Cochat; Jean-Pierre Grünfeld; Jean-Bernard Palcoux; Marie-Claire Gubler; Corinne Antignac


Book ID
117852604
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
241 KB
Volume
63
Category
Article
ISSN
0002-9297

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Detection of 12 novel mutations in the c
✍ Eileen Boye; Frances Flinter; Jing Zhou; Karl Tryggvason; Martin Bobrow; Ann Har 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 1019 KB

A population of 35 Alport syndrome patients, defined by strict diagnostic criteria, was screened for mutations in 23 exons of the COL4A5 gene by SSCP analysis. Mobility shifts were observed in 12 out of 35 patients and were shown to represent genuine mutations. 9 of these were glycine substitutions