Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.

Nozu, Kandai

Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients. [electronic resource] - Pediatric nephrology (Berlin, Germany) Nov 2008 - 2085-90 p. digital

Publication Type: Case Reports; Journal Article

0931-041X

10.1007/s00467-008-0878-y doi


Adult
Chromosomes, Human, X
Collagen Type IV--genetics
Female
Gene Deletion
Genetic Testing--methods
Heterozygote
Humans
Kidney--metabolism
Nephritis, Hereditary--genetics
Polymorphism, Single-Stranded Conformational
RNA, Messenger
Reverse Transcriptase Polymerase Chain Reaction