Mutation analysis of phenylketonuria in South Brazil

Human Mutation

Volumn 8, Issue 3, 1996, Pages 262-264

  Pérez, Belén ^a   Desviat, Lourdes R ^a   De Lucca, Marisel ^a   Schmidt, Benjamin ^b   Loghin Grosso, Nicole ^b   Giugliani, Roberto ^c   Pires, Ricardo F ^c   Ugarte, Magdalena ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b Associacao de Pais e Amigos dos Excepcionais de Sao Paulo   (Brazil)

^c HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; BRAZIL; DNA DETERMINATION; GENE MUTATION; GENETIC ASSOCIATION; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MIGRATION; PHENYLKETONURIA; PRIORITY JOURNAL;

ALLELES; BRAZIL; DNA PRIMERS; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMERASE CHAIN REACTION;

EID: 0029796675     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:3<262::AID-HUMU10>3.0.CO;2-0     Document Type: Article

References (6)

1. Desviat LR, Pérez B, De Lucca M, Cornejo V, Schmidt B, Ugarte M (1995) Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity. Am J Hum Genet 57:337-342.
2. Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholomé K, Grudda K, Horst J (1991) Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of Southern Europe. Genomics 11:242-246.
3. Pérez B, Desviat LR, Ugarte M (1994b) Spectrum and origin of PKU mutations in Spain. Acta Paedriat Suppl 407:34-36.
4. Treacy E, Byck S, Clow C, Scriver CR (1993) 'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec. Eur J Hum Genet 1:220-228.
5. Tyfield LA, Osborn MJ, King SK, Jones MM, Holton JB (1993) Molecular basis of phenylketonuria in the English population. Dev Brain Dysfunct 6:60-67.
6. Zschocke J, Graham CA, Stewart FJ, Carson DJ, Nevin NC (1994) Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninemia. Acta Pediatr Suppl 407:37-38.