Format

Send to

Choose Destination
Hum Mol Genet. 1992 May;1(2):127-9.

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

Author information

1
Dipartimento di Biologia Molecolare, Università di Siena, Italy.

Abstract

Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the alpha 5(IV) chain.

PMID:
1363780
DOI:
10.1093/hmg/1.2.127
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Silverchair Information Systems
Loading ...
Support Center