Results 151 to 160 of about 3,450 (166)
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Two novel alternatively spliced 9-bp exons in the COL4A5 gene
Pediatric Nephrology, 2001The existence of an alternatively used 18-bp sequence has been described in type IV collagen alpha 5 chain mRNA from human kidney (Guo et al., Kidney Int 44, 1993). In this study we have shown that this sequence is encoded by two exons, termed 41A and 41B, that are located in a 9-kb intron 41 that was sequenced in its entirety.
P H, Martin, K, Tryggvason
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ADPKD and Collagen Genes (COL4A3, COL4A4, COL4A5)
Journal of the American Society of Nephrology, 2023Carlotta Caprara +8 more
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[Thin basement membrane nephropathy: a mutation in COL4A5 gene].
Zhonghua nei ke za zhi, 2003To investigate the mutations in COL4A5 in 3 X-linked thin basement membrane nephropathy families.PCR-SSCP analysis were used for 51 exons of COL4A5 gene. If bands shift were found, then automated sequencing was performed after cloning in pGEM-T easy vectors.In one of the three families a glycine to alanine substitution was identified in the collagenous
Y, Chen, S, Zhu, Y, Zhang
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Gene symbol: COL4A5. Disease: Alport syndrome.
Human genetics, 2005NERI, Tauro Maria, SEBASTIO P.
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MLPA and cDNA analysis improves COL4A5 mutation detection in X‐linked Alport syndrome
Clinical Genetics, 2008Jens Michael Hertz
exaly
Gene symbol: COl4A5. Disease: Alport Syndrome.
Human genetics, 2008Judy, Savige +7 more
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