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A Frequent Splicing Mutation and Novel Missense Mutations Color the Updated Mutational Spectrum of Classic Galactosemia in Portugal

AuthID
P-008-QK3

Author(s)

Coelho, AI

Ramos, R

Gaspar, A

Costa, C

Oliveira, A

Diogo, L

Garcia, P

Paiva, S

Martins, E

Teles, EL

Rodrigues, E

Teresa Cardoso, MT

Leite, M

Tipo de Documento

Article

Year published

2014

Publicado

in JOURNAL OF INHERITED METABOLIC DISEASE, ISSN: 0141-8955

Volume: 37, Número: 1, Páginas: 43-52 (10)

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Publication Identifiers

DOI: 10.1007/s10545-013-9623-1

Pubmed: 23749220

SCOPUS: 2-s2.0-84891753430

Wos: WOS:000329100200006

Source Identifiers

ISSN: 0141-8955

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A Frequent Splicing Mutation and Novel Missense Mutations Color the Updated Mutational Spectrum of Classic Galactosemia in Portugal

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A Frequent Splicing Mutation and Novel Missense Mutations Color the Updated Mutational Spectrum of Classic Galactosemia in Portugal

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