A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11
Tekijät: Lauteala T, Mykkanen J, Horelli-Kuitunen N, Aaltonen J, Paavola P, Savontaus ML, Simell O, Aula P
Kustantaja: HEREDITAS-DISTRIBUTION
Julkaisuvuosi: 1999
Journal: Hereditas
Tietokannassa oleva lehden nimi: HEREDITAS
Lehden akronyymi: HEREDITAS
Vuosikerta: 130
Numero: 1
Aloitussivu: 19
Lopetussivu: 24
Sivujen määrä: 6
ISSN: 0018-0661
DOI: https://doi.org/10.1111/j.1601-5223.1999.00019.x
Verkko-osoite: http://onlinelibrary.wiley.com/doi/10.1111/j.1601-5223.1999.00019.x/pdf
Tiivistelmä
Lysinuric protein intolerance is a recessively inherited metabolic disease characterized by defective efflux of cationic amino acids at the basolateral membrane of the intestinal and renal tubular epithelium. Linkage analysis and further linkage disequilibrium in Finnish LPI families have earlier assigned LPI gene locus within or in close vicinity of T-cell receptor alpha/delta gene cluster on chromosome site 14q11. In the present work we have characterized the linkage defined LPI region using RH-mapping and fiber-FISH and searched the LPI gene from the reported sequence of the T-cell receptor gene.
Lysinuric protein intolerance is a recessively inherited metabolic disease characterized by defective efflux of cationic amino acids at the basolateral membrane of the intestinal and renal tubular epithelium. Linkage analysis and further linkage disequilibrium in Finnish LPI families have earlier assigned LPI gene locus within or in close vicinity of T-cell receptor alpha/delta gene cluster on chromosome site 14q11. In the present work we have characterized the linkage defined LPI region using RH-mapping and fiber-FISH and searched the LPI gene from the reported sequence of the T-cell receptor gene.
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