Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.

doi:10.1016/0888-7543(91)90215-z

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Article

Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.

Genomics - 1 Jan 1991

Zhou J, Barker D F, Hostikka S L, Gregory M C, Atkin C L, Tryggvason K

Abstract excerpt

We have identified a point mutation in the type IV collagen alpha 5 chain gene (COL4A5) in Alport syndrome. Variant PstI (Barker et al., 1990, Science 248, 1224-1227), and BglII restriction sites with complete linkage with the Alport phenotype have been found in the 3' end of the COL4A5 gene in the large Utah Kindred P. The approximate location of the variant sites was determined by restriction enzyme mapping,...

Topics

Bacterial Proteins
Base Sequence
Blotting, Southern
Collagen
Cysteine
Deoxyribonucleases, Type II Site-Specific
Female
Genes
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nephritis, Hereditary

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Restriction Mapping

Serine

Source

Open in PubMed

Identifiers

PMID: 1672282
DOI: 10.1016/0888-7543(91)90215-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1672282-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.PMID 1672282Read ↗

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