2015
DOI: 10.1186/s12876-015-0261-y
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"V体育平台登录" Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene

"VSports在线直播" Abstract: BackgroundCongenital lactase deficiency (CLD) is a rare severe autosomal recessive disorder, with symptoms like watery diarrhea, meteorism and malnutrition, which start a few days after birth by the onset of nursing. The most common rationales identified for this disorder are missense mutations or premature stop codons in the coding region of the lactase-phlorizin hydrolase (LPH) gene. Recently, two heterozygous mutations, c.4419C > G (p.Y1473X) in exon 10 and c.5387delA (p.D1796fs) in exon 16, have been ident… "V体育ios版" Show more

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Cited by 42 publications

(31 citation statements)
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