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Article

Diagnostic approaches to apparent homozygosity.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2012

Landsverk Megan L, Douglas Ganka V, Tang Sha, Zhang Victor W, Wang Guo-Li, Wang Jing, Wong Lee-Jun C

Abstract excerpt

PURPOSE: Sanger sequencing is a mainstay for the identification of gene mutations used in molecular diagnostic laboratories. However, in autosomal recessive disorders, failure of allele amplification can occur for a variety of reasons, leading heterozygous mutations to appear homozygous. We sought to investigate the frequency at which apparently homozygous mutations detected by Sanger sequencing in our laboratory...

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PMID: 22595940
DOI: 10.1038/gim.2012.58

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

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