Short Communication — The PAH Gene
Phenotype distribution in the Spanish phenylketonuria population and related genotypes
M. Martínez-Pardo,
M. Martínez-Pardo
S. Pediatría, Hospital Ramón y Cajal, Madrid, Spain
Search for more papers by this author A. R. Colmenares,
A. R. Colmenares
S. Pediatría, Hospital Ramón y Cajal, Madrid, Spain
Search for more papers by this author M. J. García,
M. J. García
Centro de Biologia Molecular ‘Severo Ochoa’, CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Madrid, 28049 Spain
Search for more papers by this author B. Pérez,
B. Pérez
Centro de Biologia Molecular ‘Severo Ochoa’, CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Madrid, 28049 Spain
Search for more papers by this author L. R. Desviat,
L. R. Desviat
Centro de Biologia Molecular ‘Severo Ochoa’, CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Madrid, 28049 Spain
Search for more papers by this author M. Ugarte,
M. Ugarte
Centro de Biologia Molecular ‘Severo Ochoa’, CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Madrid, 28049 Spain
Search for more papers by this author
M. Martínez-Pardo,
M. Martínez-Pardo
S. Pediatría, Hospital Ramón y Cajal, Madrid, Spain
Search for more papers by this author A. R. Colmenares,
A. R. Colmenares
S. Pediatría, Hospital Ramón y Cajal, Madrid, Spain
Search for more papers by this author M. J. García,
M. J. García
Centro de Biologia Molecular ‘Severo Ochoa’, CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Madrid, 28049 Spain
Search for more papers by this author B. Pérez,
B. Pérez
Centro de Biologia Molecular ‘Severo Ochoa’, CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Madrid, 28049 Spain
Search for more papers by this author L. R. Desviat,
L. R. Desviat
Centro de Biologia Molecular ‘Severo Ochoa’, CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Madrid, 28049 Spain
Search for more papers by this author M. Ugarte,
M. Ugarte
Centro de Biologia Molecular ‘Severo Ochoa’, CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Madrid, 28049 Spain
Search for more papers by this author
First published: 01 May 1994
No abstract is available for this article.
References
- 1Desviat LR, Perez B, Ugarte M (1993) Phenylketonuria in Spain: RFLP haplotypes and linked mutations. Hum Genet, 92: 254–258.
- 2Eiken HG, Knappskog PM, Apold J (1993) Restriction enzyme-based assays for complete genotyping of phenylketonuria patients. Dev Brain Dysfunct, 6: 53–59.
- 3Eisensmith RC, Woo SLC (1992) Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutation and polymorphisms in the human phenylalanine hydroxylase gene. Hum Mutat, 1: 13–23.
- 4Güttler F, Guldberg KF, Henriksen KF, Mikkelsen I, Olsen B, Lou H (1993) Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias. J Inher Metab Dis, 16: 602–604.
