Publicação
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients
| dc.contributor.author | Rivera, I | |
| dc.contributor.author | Cabral, A | |
| dc.contributor.author | Almeida, M | |
| dc.contributor.author | Leandro, P | |
| dc.contributor.author | Carmona, C | |
| dc.contributor.author | Eusebio, F | |
| dc.contributor.author | Tasso, T | |
| dc.contributor.author | Vilarinho, L | |
| dc.contributor.author | Martins, E | |
| dc.contributor.author | Lechner, MC | |
| dc.contributor.author | de Almeida, IT | |
| dc.contributor.author | Konecki, DS | |
| dc.contributor.author | Lichter-Konecki, U | |
| dc.date.accessioned | 2015-12-30T10:17:07Z | |
| dc.date.available | 2015-12-30T10:17:07Z | |
| dc.date.issued | 2000 | |
| dc.description.abstract | To understand the basis for the clinical heterogeneity of phenylalanine hydroxylase deficiency among Portuguese hyperphenylalaninemic patients, genotype-phenotype correlations were established. A group of 61 patients was completely genotyped, leading to t | |
| dc.format | application/pdf | |
| dc.identifier.citation | MOLECULAR GENETICS AND METABOLISM. - Vol. 69, n. 3 (MAR 2000), p. 195-203 | |
| dc.identifier.issn | 1096-7192 | |
| dc.identifier.uri | http://hdl.handle.net/10451/20934 | |
| dc.language.iso | eng | |
| dc.publisher | ACADEMIC PRESS INC | |
| dc.subject | Biochemistry & Molecular Biology | |
| dc.subject | Genetics & Heredity | |
| dc.subject | Medicine, Research & Experimental | |
| dc.title | The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients | |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 203 | por |
| oaire.citation.startPage | 195 | por |
| oaire.citation.title | MOLECULAR GENETICS AND METABOLISM | por |
| oaire.citation.volume | Vol. 69 | por |
| rcaap.rights | restrictedAccess | |
| rcaap.type | article |