Genetic basis of hyperlysinemia

BACKGROUND: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia. METHODS: We collected the clinic...

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Detalhes bibliográficos
Main Authors: Houten, Sander M, te Brinke, Heleen, Denis, Simone, Ruiter, Jos PN, Knegt, Alida C, de Klerk, Johannis BC, Augoustides-Savvopoulou, Persephone, Häberle, Johannes, Baumgartner, Matthias R, Coşkun, Turgay, Zschocke, Johannes, Sass, Jörn Oliver, Poll-The, Bwee Tien, Wanders, Ronald JA, Duran, Marinus
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3626681/
https://ncbi.nlm.nih.gov/pubmed/23570448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-57
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