PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.

The PAH Mutation Analysis Consortium (81 investigators, 26 countries) is engaged in mutation detection at the human PAH locus. Ascertainment of probands occurs largely through newborn screening for hyperphenylalaninemia. A relational database records allelic variation (disease-producing and polymorp...

ver descrição completa

Detalhes bibliográficos

Publicado no:	Nucleic Acids Res
Principais autores:	Hoang, L, Byck, S, Prevost, L, Scriver, C R
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Oxford University Press 1996
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC145593/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8594560/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/24.1.127
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!