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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English English |
| Published: |
Springer Berlin Heidelberg
2014
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| Subjects: | |
| Online Access: | http://irep.iium.edu.my/38537/ http://irep.iium.edu.my/38537/ 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 |