Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

David F. Barker, Sirkka Liisa Hostikka, Jing Zhou et al. · Science · 1990 · 881 citations

Medicine, Genetics, Molecular Genetics +17

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

Bertrand Knebelmann, Christelle Breillat, Lionel Forestier et al. · PubMed · 1996 · 156 citations

Life Sciences, Genetics, Molecular Genetics +11

Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.

Jingbin Zhou, Jens Michael Hertz, Anu Leinonen et al. · Journal of Biological Chemistry · 1992 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody.

Kazuo Yoshioka, Shinjiro Hino, Tamiko Takemura et al. · PubMed · 1994 · 145 citations · Full text

Medicine, Pathobiology, Pathology +7