Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations

Human Mutation

Volumn 11, Issue 5, 1998, Pages 354-359

  De Lucca, Marisel ^a   Pérez, Belén ^a   Desviat, Lourdes R ^a   Ugarte, Magdalena ^a,b  

^a CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Expression analysis; Mutation; PKU

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MOLECULAR GENETICS; PHENYLKETONURIA; POINT MUTATION; PRIORITY JOURNAL; SIBLING; STOP CODON; VENEZUELA;

ALLELES; ANIMALS; COS CELLS; GENOTYPE; HAPLOTYPES; HUMANS; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; VENEZUELA;

EUKARYOTA; PROKARYOTA;

EID: 0031977420     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:5<354::AID-HUMU2>3.0.CO;2-W     Document Type: Article

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