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

AuthID
 P-008-QK3
19
Author(s)
Ramos, R
·
Costa, C
·
Oliveira, A
·
Diogo, L
·
Garcia, P
·
Paiva, S
·
Teles, EL
·
Rodrigues, E
·
Teresa Cardoso, MT
·
Leite, M
·
Document Type
Article
Year published
2014
Published
in JOURNAL OF INHERITED METABOLIC DISEASE, ISSN: 0141-8955
Volume: 37, Issue: 1, Pages: 43-52 (10)
Indexing
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Publication Identifiers
Pubmed: 23749220
SCOPUS: 2-s2.0-84891753430
Wos: WOS:000329100200006
Source Identifiers
ISSN: 0141-8955
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