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Article

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

American journal of human genetics - 1 Feb 2006

Kuokkanen Mikko, Kokkonen Jorma, Enattah Nabil Sabri, Ylisaukko-Oja Tero, Komu Hanna, Varilo Teppo, Peltonen Leena, Savilahti Erkki, Jarvela Irma

Abstract excerpt

Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. We initially assigned the CLD locus by linkage and linkage disequilibrium on 2q21 in 19 Finnish families. Here we report the molecular background of CLD via characterization of five distinct mutations in the coding region of the lactase...

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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: 16400612
DOI: 10.1086/500053
PMCID: PMC1380240

Genes

LCT

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.PMID 16400612Read ↗

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