Molecular genetics of human lactase deficiencies.

doi:10.1080/07853890903121033

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Article

Molecular genetics of human lactase deficiencies.

Annals of medicine - 1 Jan 2009

Järvelä Irma, Torniainen Suvi, Kolho Kaija-Leena

Abstract excerpt

Lactase non-persistence (adult-type hypolactasia) is present in more than half of the human population and is caused by the down-regulation of lactase enzyme activity during childhood. Congenital lactase deficiency (CLD) is a rare severe gastrointestinal disorder of new-borns enriched in the Finnish population. Both lactase deficiencies are autosomal recessive traits and characterized by diminished expression of...

Topics

Adult
Child
Down-Regulation
Finland
Gene Expression Regulation, Enzymologic
Genotype
Humans
Lactase
Lactose Intolerance
Molecular Biology
Phenotype
Polymorphism, Single Nucleotide

Source

Open in PubMed

Identifiers

PMID: 19639477
DOI: 10.1080/07853890903121033

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