Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: Genotype-phenotype correlation

Human Genetics

Volumn 105, Issue 5, 1999, Pages 468-473

  Mallolas, Judith ^a   Vilaseca, M Antònia ^a   Campistol, Jaume ^c   Lambruschini, Nilo ^a   Cambra, Francisco José ^a   Estivill, Xavier ^d   Milà, Montserrat ^a,b  

^a HOSPITAL CLÍNIC   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

^d HOSPITAL DURAN I REYNALS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; HYPERPHENYLALANINEMIA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL; SPAIN;

ALLELES; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; SPAIN;

EID: 0032756656     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051132     Document Type: Article

References (19)

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