A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations

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A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations

Background Female subjects with X-linked Alport syndrome have a single COL4A5 mutation, germ cell mosaicism in affected tissues and typically develop renal failure later or less often than male subjects. Women with two mutations are exceedingly rare, and usually have consanguineous parents or unipar...

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Bibliographic Details
Main Authors:	Mohammad, Mardhiah, Nanra, Ranjit, Colville, Deb, Trevillian, Paul, Wang, Yanyan, Storey, Helen, Flinter, Frances, Savige, Judy
Format:	Article
Language:	English English
Published:	Springer Berlin Heidelberg 2014
Subjects:	R Medicine (General)
Online Access:	http://irep.iium.edu.my/38537/ http://irep.iium.edu.my/38537/1/mardhiah_jurnal2.pdf http://irep.iium.edu.my/38537/4/WOS_Q1.pdf

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