Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 other genomic probes specific for the 5' upstream region of the AT-III gene, we were able to characterize a partial...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Base Sequence
Share to Blotting, Southern

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Molecular Sequence Data

Share to Polymerase Chain Reaction

Share to Regulatory Sequences, Nucleic Acid

Source

Identifiers

PMID: 1520874

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Partial deletion of an antithrombin III allele in a kindred with a type 1 deficiency.PMID 1520874Read ↗

Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency--partial/complete deletions and rearrangement of the antithrombin gene.Semantic proximity Read ↗

The antithrombin III gene polymorphism in Japan: examination for haplotypes relevant to disordered antithrombin III biosynthesis.Semantic proximity Read ↗

Antithrombin III Kumamoto: identification of a point mutation and genotype analysis of the family.Semantic proximity Read ↗

Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas.Semantic proximity Read ↗

Two novel gene mutations in type I antithrombin deficiency.Semantic proximity Read ↗

Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6.Semantic proximity Read ↗

Molecular and genetic characterization and physical mapping of 11 new markers detecting multiallele restriction fragment length polymorphisms on the short arm of human chromosome 3.Semantic proximity Read ↗

Molecular genetics of human antithrombin deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.