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Article

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

Human mutation - 1 Feb 2017

Fu Wenqing, Ligabue Alessio, Rogers Kai J, Akey Joshua M, Monnat Raymond J

Abstract excerpt

Heritable loss of function mutations in the human RECQ helicase genes BLM, WRN, and RECQL4 cause Bloom, Werner, and Rothmund-Thomson syndromes, cancer predispositions with additional developmental or progeroid features. In order to better understand RECQ pathogenic and population variation, we systematically analyzed genetic variation in all five human RECQ helicase genes. A total of 3,741 unique base pair-level...

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Identifiers

PMID: 27859906
DOI: 10.1002/humu.23148
PMCID: PMC5518694

Genes

BLM
RECQL
RECQL4
RECQL5
WRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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