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The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.

The Hartnup mutation affects an amino acid transport system of intestine and kidney used by a large group of neutral charge alpha-amino acids (six essential and several nonessential). We compared developmental outcomes and medical histories of 21 Hartnup subjects, identified through newborn screenin...

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Detalhes bibliográficos
Main Authors: Scriver, C R, Mahon, B, Levy, H L, Clow, C L, Reade, T M, Kronick, J, Lemieux, B, Laberge, C
Formato: Artigo
Idioma:Inglês
Publicado em: 1987
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684147/
https://ncbi.nlm.nih.gov/pubmed/3578280
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