Results 141 to 145 of about 4,380 (145)

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria

Kidney International, 2007
A Hvala, S Kaplan-Pavlovčič, D Ferluga
exaly  

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients

Human Mutation, 2000
Helena Kääriäinen, Olli Koskimies, K Tryggvason   +2 more
exaly  

The Alport syndrome COL4A5 variant database†

Human Mutation, 2010
David K Crockett, Elaine Lyon
exaly  

Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene

Human Genetics, 2005
Mårten Segelmark, Jens M Hertz
exaly  

Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome

Pediatric Nephrology, 2016
Jeffrey H Miner, Tarek Alhamad
exaly