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Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

✍ Scribed by Van Der Loop, Frank T.L.; Heidet, Laurence; Timmer, Erika D.J.; Van Den Bosch, Bianca J.C.; Leinonen, Anu; Antignac, Corinne; Jefferson, J. Ashley; Maxwell, A. Peter; Monnens, Leo A.H.; Schroder, Cornelis H.; Smeets, Hubert J.M.


Book ID
109065163
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
411 KB
Volume
58
Category
Article
ISSN
0085-2538

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This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate

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Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.