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Article

Discovery of rare homozygous mutations from studies of consanguineous pedigrees.

Current protocols in human genetics - 1 Oct 2012

Alkuraya Fowzan S

Abstract excerpt

The unmasking of recessive mutations by virtue of biparental inheritance of the same ancestral haplotype on which they reside (autozygosity) has provided human geneticists with one of their most powerful tools in unraveling the genetic basis of autosomal recessive disorders. This has historically been achieved by tracking the blocks of homozygosity as surrogates of autozygosity using polymorphic microsatellite...

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Identifiers

PMID: 23074070
DOI: 10.1002/0471142905.hg0612s75

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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