Lysinuric Protein Intolerance (LPI) Gene Maps to the Long Arm of Chromosome 14
In: The American Journal of Human Genetics, Jg. 60 (1997-06-01), S. 1479-1486
Online
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Zugriff:
SummaryLysinuric protein intolerance (LPI) is an autosomal recessive disease characterized by defective transport of cationic amino acids and by hyperammonemia. Linkage analysis in 20 Finnish LPI families assigned the LPI gene locus to the proximal long arm of chromosome 14. Recombinations placed the locus between framework markers D14S72 and MYH7, a 10-cM interval in which the markers D14S742, D14S50, D14S283, and TCRA showed no recombinations with the phenotype. The phenotype was in highly significant linkage disequilibrium with markers D14S50, D14S283, and TCRA. The strongest allelic association obtained with marker TCRA, resulting in a Pexcess value of .98, suggests that the LPI gene locus lies in close proximity to this marker, probably within a distance of
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Lysinuric Protein Intolerance (LPI) Gene Maps to the Long Arm of Chromosome 14
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| Autor/in / Beteiligte Person: | Simell, Jaakko ; Aula, Pertti ; Simell, Olli ; Lauteala, Tuija ; Lukkarinen, Mari ; Mykkänen, Juha ; Savontaus, Marja-Liisa ; Sistonen, Pertti |
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| Zeitschrift: | The American Journal of Human Genetics, Jg. 60 (1997-06-01), S. 1479-1486 |
| Veröffentlichung: | Elsevier BV, 1997 |
| Medientyp: | unknown |
| ISSN: | 0002-9297 (print) |
| DOI: | 10.1086/515457 |
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