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Article

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.

American journal of human genetics - 4 May 2012

Kirwan Michael, Walne Amanda J, Plagnol Vincent, Velangi Mark, Ho Aloysius, Hossain Upal, Vulliamy Tom, Dokal Inderjeet

Abstract excerpt

Aplastic anemia (AA) and myelodysplasia (MDS) are forms of bone marrow failure that are often part of the same progressive underlying disorder. While most cases are simplex and idiopathic, some show a clear pattern of inheritance; therefore, elucidating the underlying genetic cause could lead to a greater understanding of this spectrum of disorders. We used a combination of exome sequencing and SNP haplotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22541560
DOI: 10.1016/j.ajhg.2012.03.020
PMCID: PMC3376490

Genes

SRP72

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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