المؤلفون: Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)

مصطلحات موضوعية: biochemical and genetic findings, haplotypic study, mutation spectrum, phenylketonuria, Portuguese population, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/9eab7f6ab4204d20b65d07db2cb1d539Test

المؤلفون: Ferreira, F, Azevedo, L, Neiva, R, Sousa, C, Fonseca, H, Marcão, A, Rocha, H, Carmona, C, Ramos, S, Bandeira, A, Martins, E, Campos, T, Rodrigues, E, Garcia, P, Diogo, L, Ferreira, AC, Sequeira, S, Silva, F, Rodrigues, L, Gaspar, A, Janeiro, P, Amorim, A, Vilarinho, L

مصطلحات موضوعية: Portuguese population, Biochemical and genetic findings, Haplotypic study, Mutation spectrum, Phenylketonuria, HDE MTB

العلاقة: Mol Genet Genomic Med . 2021 Mar;9(3):e1559; http://hdl.handle.net/10400.17/4072Test

الإتاحة: https://doi.org/10.1002/mgg3.1559Test
http://hdl.handle.net/10400.17/4072Test

المؤلفون: Francisco Silva, Sónia Ramos, Helena Fonseca, Luísa Azevedo, Filipa Ferreira, Raquel Neiva, Carmen Sousa, Ana Marcão, Laura Vilarinho, Paula Garcia, Patrícia Janeiro, Sílvia Sequeira, Esmeralda Martins, António Amorim, Esmeralda Rodrigues, Luísa Diogo, Anabela Bandeira, Hugo Rocha, Ana C. Ferreira, Ana Maria Minarelli Gaspar, Teresa Campos, Célia Carmona, Luísa C. Rodrigues

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Molecular Genetics & Genomic Medicine
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Phenylalanine hydroxylase, HDE MTB, biochemical and genetic findings, Population, phenylketonuria, Phenylalanine, Disease, QH426-470, 030105 genetics & heredity, Biology, Compound heterozygosity, Biochemical, 03 medical and health sciences, Portuguese population, Neonatal Screening, Gene Frequency, Liver enzyme, Phenylketonurias, Genetics, Humans, Phenylketonuria, Haplotypic Study, Mutation Spectrum, education, Molecular Biology, Genotype-Phenotype Correlations, Genetics (clinical), haplotypic study, education.field_of_study, Portugal, Homozygote, Infant, Newborn, Phenylalanine Hydroxylase, Original Articles, Biochemical and genetic findings, 030104 developmental biology, Phenotype, Haplotypes, Genetic marker, Mutation, biology.protein, mutation spectrum, Genetic Findings, Female, Original Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec34ddd023de871a85080df47b2e6bbTest
https://hdl.handle.net/10400.17/3707Test