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Detection of mutations in the COL4A5 gene in over 90% of male patients with x-linked Alport's syndrome by RT-PCR and direct sequencing

✍ Scribed by Yuji Inoue; Hisahide Nishio; Taku Shirakawa; Koichi Nakanishi; Hajime Nakamura; Kimiaki Sumino; Kaoru Nishiyama; Kazumoto Iijima; Norishige Yoshikawa


Book ID
117444315
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
53 KB
Volume
34
Category
Article
ISSN
0272-6386

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πŸ“œ SIMILAR VOLUMES


Detection of mutations in the COL4A5 gen
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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

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## Communicated by Sesgio Otrdenghi Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene.

Prenatal diagnosis of X-linked hyper-IGM
✍ R. Jayoussi–Assalia; A. Etzioni; L.D. Notarangelo; R. Brill-Zamir; L. Kasinetz; πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 55 KB πŸ‘ 2 views

We present the first report of prenatal diagnosis of X-linked hyper-IgM syndrome by PCR-mediated site directed mutagenesis (PSM) in a woman known to carry the Q220X mutation in the CD40L gene. Using the simple PSM assay, the Q220X mutation was identified by chorionic villous sampling (CVS) at 11 wee