Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics
J Pediatr
.
2002 May;140(5):502-6.
doi: 10.1067/mpd.2002.124316.
Author
Charles R Scriver
1
Affiliation
1
Department of Human Genetics, McGill University, Montréal, Québec, Canada. charles.scriver@mcgill.ca
PMID:
12032513
DOI:
10.1067/mpd.2002.124316
No abstract available
Publication types
Review
MeSH terms
DNA Mutational Analysis*
Evolution, Molecular
Gene Expression / physiology*
Genetic Testing*
Homeostasis
Humans
Mutation / physiology
Phenotype*
Phenylketonurias / genetics