Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population

European Journal of Human Genetics

Volumn 5, Issue 4, 1997, Pages 196-202

  Desviat, L R ^a   Perez B ^a   Garcia M J ^a   Martinez Pardo M ^b   Baldellou, A ^c   Arena, J ^d   Sanjurjo, P ^e   Campistol, J ^f   Couce, M L ^g   Fernandez A ^h   Cardesa, J ⁱ   Ugarte, M ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^d Hospital Nuestra Senora de Aranzazu   (Spain)

^e HOSPITAL DE CRUCES   (Spain)

^f HOSPITAL SANT JOAN DE DÉU   (Spain)

^g HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^h Centro de Bioquímica y Genética Clínica   (Spain)

ⁱ HOSPITAL INFANTA CRISTINA   (Spain)

Author keywords

Genotype phenotype correlation; Mutations; Phenylketonuria

Indexed keywords

ARTICLE; GENE MUTATION; GENOTYPE; HUMAN; PHENOTYPE; PHENYLKETONURIA; POPULATION GENETICS; PRIORITY JOURNAL; SPAIN;

EID: 12644305914     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484763     Document Type: Article

References (18)

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