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Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

Lysinuric 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...

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Autors principals: Lauteala, T, Sistonen, P, Savontaus, M L, Mykkänen, J, Simell, J, Lukkarinen, M, Simell, O, Aula, P
Format: Artigo
Idioma:Inglês
Publicat: 1997
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716131/
https://ncbi.nlm.nih.gov/pubmed/9199570
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