Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. Differential mechanism-based labeling and unequivocal activity assignment of the two active sites of intestinal lactase/phlorizin hydrolase;Arribas;Eur J Biochem,2000

2. Nonsense mutations in the human beta-globin gene affect mRNA metabolism;Baserga;Proc Natl Acad Sci USA,1988

3. Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase;Boll;Am J Hum Genet,1991

4. Identification of a variant associated with adult-type hypolactasia;Enattah;Nat Genet,2002

5. Protein patterns of brush-border fragments in congenital lactose malabsorption and in specific hypolactasia of the adult;Freiburghaus;N Engl J Med,1976

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