The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

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

Bibliographic Details
Main Author: Rivera, I (author)
Other Authors: Cabral, A (author), Almeida, M (author), Leandro, P (author), Carmona, C (author), Eusebio, F (author), Tasso, T (author), Vilarinho, L (author), Martins, E (author), Lechner, MC (author), de Almeida, IT (author), Konecki, DS (author), Lichter-Konecki, U (author)
Format: article
Language:eng
Published: 2015
Subjects:
Biochemistry & Molecular Biology
Genetics & Heredity
Medicine, Research & Experimental
Online Access:http://hdl.handle.net/10451/20934
Country:Portugal
Oai:oai:repositorio.ul.pt:10451/20934
Description
Summary: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

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