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Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells

✍ Scribed by Matsuura, Toshinobu; Koitabashi, Yasushi; Takada, Tsuneo; Yoshioka, Kazuo; Endo, Fumio; Matsuda, Ichiro; Nakazato, Hitoshi; Hattori, Shinzaburo; Ushijima, Tadashi


Book ID
109883853
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
870 KB
Volume
46
Category
Article
ISSN
0085-2538

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Novel COL4A5, COL4A4, and COL4A3 mutatio
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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

Spectrum of COL4A5 mutations in Finnish
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Alport syndrome (AS) is a hereditary kidney disorder, mainly caused by mutations in the Xchromosomal gene (COL4A5) encoding the type IV collagen Ξ± Ξ±5 chain. In this study, detection of COL4A5 mutations was performed in 17 Finnish Alport syndrome families. Regions around the 51 previously known exons

Detection of mutations in COL4A5 in pati
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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

Detection of mutations in the COL4A5 gen
✍ Jens Michael Hertz; Inger Juncker; Ulf Persson; Gert Matthijs; JΓΆrg Schmidtke; M πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 260 KB

Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of typ