A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal

Journal of Inherited Metabolic Disease

Volumn 37, Issue 1, 2014, Pages 43-52

  Coelho, Ana I ^a   Ramos, Ruben ^a   Gaspar, Ana ^b   Costa, Cláudia ^b   Oliveira, Anabela ^b   Diogo, Luísa ^c   Garcia, Paula ^c   Paiva, Sandra ^c   Martins, Esmeralda ^d   Teles, Elisa Leão ^e   Rodrigues, Esmeralda ^e   Cardoso, M Teresa ^e   Ferreira, Elena ^f   Sequeira, Sílvia ^g   Leite, Margarida ^a   Silva, Maria João ^a   De Almeida, Isabel Tavares ^a   Vicente, João B ^a   Rivera, Isabel ^a  

^a UNIVERSITY OF LISBON   (Portugal)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^d HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^e HOSPITAL DE SÃO JOÃO   (Portugal)

^f Hospital Centre   (Portugal)

^g HOSPITAL DONA ESTEFÂNIA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; FEMALE; GALACTOSEMIA; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PORTUGAL; PROTEIN STABILITY; PROTEIN STRUCTURE; SCHOOL CHILD; SEQUENCE ANALYSIS; SPLICING DEFECT; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; DNA MUTATIONAL ANALYSIS; FEMALE; GALACTOSE; GALACTOSEMIAS; GALACTOSEPHOSPHATES; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; PORTUGAL; RNA SPLICING; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; YOUNG ADULT;

EID: 84891753430     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9623-1     Document Type: Article

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