PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.
Nucleic Acids Res
; 24(1): 127-31, 1996 Jan 01.
Article
em En
| MEDLINE
| ID: mdl-8594560
ABSTRACT
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 polymorphic) at the locus. Information is distributed by Newsletter, diskette (WINPAHDB software stand-alone executable on IBM compatible hardware), and at a 'real' site on the Worldwide Web (http//www.mcgill.ca/pahdb). The database presently records (Sept. 27, 1995) 248 alleles in 798 different associations (with polymorphic haplotype, geographic region and population) along with additional information. The database, as a record of human genetic diversity, at a particular locus, contributes to the study of human evolution and demic expansion; it also has medical relevance.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenilalanina Hidroxilase
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Variação Genética
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Bases de Dados Factuais
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Alelos
Limite:
Humans
Idioma:
En
Revista:
Nucleic Acids Res
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Canadá
País de publicação:
ENGLAND
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ESCOCIA
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GB
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GREAT BRITAIN
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INGLATERRA
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REINO UNIDO
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SCOTLAND
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UK
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UNITED KINGDOM