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Article

First steps in exploring prospective exome sequencing of consanguineous couples.

European journal of medical genetics - 1 Jan 2000

Teeuw Marieke, Waisfisz Quinten, Zwijnenburg Petra J G, Sistermans Erik A, Weiss Marjan M, Henneman Lidewij, ten Kate Leo P, Cornel Martina C, Meijers-Heijboer Hanne

Abstract excerpt

Consanguinity is one of the most frequent risk factors for congenital disorders. In theory, prospective exome sequencing of consanguineous couples could identify couples who both are carriers of autosomal recessive diseases, and empower such couples to make informed reproductive decisions. To investigate this, we sent blood samples to our laboratory of four pairs of consanguineous parents having one or more...

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Identifiers

PMID: 25281896
DOI: 10.1016/j.ejmg.2014.09.003

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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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