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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...

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PMID: 1671337

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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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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A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort.Semantic proximity Read ↗

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