Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria

European Journal of Human Genetics

Volumn 23, Issue 3, 2015, Pages 302-309

  Wettstein, Sarah ^a   Underhaug, Jarl ^b   Perez, Belen ^c   Marsden, Brian D ^d   Yue, Wyatt W ^d   Martinez, Aurora ^b   Blau, Nenad ^a,e  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF BERGEN   (Norway)

^c CSIC   (Spain)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CONTROLLED STUDY; DATA BASE; DIMERIZATION; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME STABILITY; EUKARYOTIC CELL; GENE FREQUENCY; GENE LOCUS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN VITRO STUDY; MISSENSE MUTATION; MOLECULAR DYNAMICS; NULL ALLELE; OLIGOMERIZATION; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN STABILITY; PROTEIN STRUCTURE; QUANTITATIVE ANALYSIS; FEMALE; GENETIC ASSOCIATION; GENETIC DATABASE; GENETICS; MALE; MUTATION; PHENYLKETONURIAS;

ALLELES; DATABASES, GENETIC; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MUTATION; PHENOTYPE; PHENYLKETONURIAS;

EID: 84938420485     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.114     Document Type: Article

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