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Article

Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.

Journal of medical genetics - 1 May 1995

Noble J S, Taylor G R, Losowsky M S, Hall R, Turner G, Mueller R F, Stewart A D

Abstract excerpt

A large pedigree showing a history of pyridoxine responsive X linked sideroblastic anaemia was screened with several polymorphic DNA markers from the X chromosome. Linkage analysis between each marker and disease status was performed, giving a maximum two point lod score of 3.64 at zero recombination with the microsatellite marker PGK1P1 at Xq11.2-12. Close linkage to PGK at Xq13.3, one of the candidate regions...

Topics

Alleles
Anemia, Sideroblastic
DNA Probes
Genetic Linkage
Genetic Markers
Genotype
Humans
Lod Score
Male
Pedigree
Pyridoxine
X Chromosome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7616548
DOI: 10.1136/jmg.32.5.389
PMCID: PMC1050436

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7616548-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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