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Article

Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency.

Gastroenterology - 1 Jun 2009

Behrendt Marc, Keiser Markus, Hoch Melanie, Naim Hassan Y

Abstract excerpt

BACKGROUND & AIMS: Congenital lactase deficiency (CLD) is a cause of disaccharide intolerance and malabsorption characterized by watery diarrhea in infants fed breast milk or lactose-containing formulas. The molecular basis of CLD is unknown. Mutations in the coding region of the brush border enzyme lactase phlorizin hydrolase (LPH) were found to cause CLD in a study of 19 Finnish families. We analyzed the...

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Identifiers

PMID: 19208354
DOI: 10.1053/j.gastro.2009.01.041

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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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