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Article

A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families.

Blood - 1 Feb 1991

Schmidel D K, Nelson R M, Broxson E H, Comp P C, Marlar R A, Long G L

Abstract excerpt

Genomic DNA samples from 12 protein S-deficient families with hereditary thrombophilia were analyzed by Southern hybridization using protein S cDNA probes. Protein S-deficient members of families A and B possessed identical restriction fragment length polymorphisms, which suggest the absence of 5.3 kb from one of their protein S alpha alleles. The abnormal alleles from individuals A7 and B1 were amplified by the...

Topics

Alleles
Base Sequence
Blotting, Southern
Chromosome Deletion
Chromosome Mapping
Exons
Gene Amplification
Genetic Variation
Glycoproteins
Humans
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Protein S

Thrombosis

Source

Identifiers

PMID: 1671337

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1671337-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families.PMID 1671337Read ↗

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