Results 171 to 180 of about 2,525,206 (182)

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

Human Genetics, 2002
Frances Flinter
exaly  

An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient

Human Molecular Genetics, 1993
E, Boye, F A, Flinter, M, Bobrow, A, Harris   +3 more
openaire   +2 more sources

Genetic Testing for X-Linked Alport Syndrome by Direct Sequencing of COL4A5 cDNA From Hair Root RNA Samples

American Journal of Kidney Diseases, 2007
Roser Torra, Elisabet Ars, Jose Ballarin
exaly  

Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an alport patient deletes the NC1 domain

Pediatric Nephrology, 1994
Rita van Damme-Lombaerts, Boudewijn van Damme   +1 more
exaly  

Splicing mutations in the COL4A5 gene in Alport's syndrome: Different mRNA expression between leukocytes and fibroblasts

American Journal of Kidney Diseases, 1995
Hitoshi Nakazato, F Endo
exaly  

Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients

Clinical Genetics, 1999
D Cruz‐Robles, R García‐Torres, C Antignac, L Forestier, S García de la Puente, R Correa‐Rotter, E García‐López, L Orozco   +7 more
openaire   +1 more source

The Alport syndrome COL4A5 variant database†

Human Mutation, 2010
David K Crockett, Elaine Lyon
exaly  

Alport syndrome in Italy. A multicenter screening for COL4A5 gene mutations

1993
A. Renieri, L. Galli, M. Seri, M. De Marchi, B. Peissel, A. Turco, G. F. Pignatti, NERI, Tauro Maria, P. Zanelli, SAVI, Mario   +9 more
openaire   +3 more sources

Detection of Pathogenic Intronic Variants for COL4A5 Gene in X-Linked Alport Syndrome: Developing a Novel Methodology

Human Mutation
Yuqiang Lv, Yanan Yang, Weiran Zhou
exaly  

Screening of mutations in the COL4A5 gene: report of the Italian multicenter study.

1993
Renieri A., Seri M., Galli L., De Marchi M., SCOLARI, Francesco   +4 more
openaire   +1 more source