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Article

Partial deletion of an antithrombin III allele in a kindred with a type 1 deficiency.

Blood - 15 Sept 1992

Fernandez-Rachubinski F, Rachubinski R A, Blajchman M A

Abstract excerpt

This report details the precise mapping of a partially deleted human antithrombin III (AT-III) allele, found in a kindred with an inherited type 1 AT-III deficiency. Using truncated AT-III probes generated by polymerase chain reaction (PCR) amplification from a full-length AT-III cDNA, as well as...

Topics

Alleles
Antithrombin III
Antithrombin III Deficiency
Base Sequence
Blood Protein Disorders
Blotting, Southern
Chromosome Deletion
Exons
Family Health
Humans
Molecular Sequence Data
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Regulatory Sequences, Nucleic Acid

Source

Identifiers

PMID: 1520874

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1520874-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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