Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
Hum Hered
; 46(4): 185-90, 1996.
Article
in En
| MEDLINE
| ID: mdl-8807319
ABSTRACT
Single-strand conformational analysis was used to screen for genetic defects in all thirteen exons of the phenylalanine hydroxylase gene (PAH) in phenylketonuria and hyperphenylalaninemia patients in the Netherlands. Exons that showed a bandshift were sequenced directly. In this way, we were able to identify 93% of the PAH mutations in a panel of 34 patients. Twenty-one different mutations were found 4 of these gene aberrations are novel.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenylalanine Hydroxylase
/
Phenylketonurias
/
Polymorphism, Single-Stranded Conformational
/
Mutation
Limits:
Humans
Country/Region as subject:
Europa
Language:
En
Journal:
Hum Hered
Year:
1996
Document type:
Article
Affiliation country:
Netherlands