21
TITLE: Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles  Full Text
AUTHORS: Licinio Manco ; Paula Goncalves; Patricia Antunes; Filomena Maduro; Augusto Abade; Leticia L Ribeiro ;
PUBLISHED: 2007, SOURCE: HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, VOLUME: 92, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
22
TITLE: Novel human pathological mutations. Gene symbol: G6PD. Disease: glucose-6-phosphate dehydrogenase deficiency.
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5
INDEXED IN: Scopus
23
TITLE: Novel human pathological mutations. Gene symbol: G6PD. Disease: glucose-6-phosphate dehydrogenase deficiency.
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5
INDEXED IN: Scopus
24
TITLE: Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency.
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5
INDEXED IN: Scopus
IN MY: ORCID
25
TITLE: Gene symbol: NT5C3. Disease: pyrimidine 5'-nucleotidase (P5'N) deficiency.
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2006, SOURCE: Human genetics, VOLUME: 119, ISSUE: 6
INDEXED IN: Scopus
26
TITLE: Molecular characterization of five Portuguese patients with pyrimidine 5 '-nucleotidase deficient hemolytic anemia showing three new P5 ' N-I mutations  Full Text
AUTHORS: Manco, L ; Relvas, L; Pinto, CS; Pereira, J; Almeida, AB; Ribeiro, ML ;
PUBLISHED: 2006, SOURCE: HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, VOLUME: 91, ISSUE: 2
INDEXED IN: Scopus WOS
IN MY: ORCID
27
TITLE: Gene symbol: NT5C3. Disease: haemolytic anemia.
AUTHORS: Manco, L ; Pereira, J; Bento, MC; Ribeiro, ML;
PUBLISHED: 2005, SOURCE: Human genetics., VOLUME: 118, ISSUE: 3-4
INDEXED IN: Scopus
IN MY: ORCID
28
TITLE: Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis  Full Text
AUTHORS: Manco, L ; Goncalves, P; Macedo Ribeiro, S ; Seabra, C; Melo, P; Ribeiro, ML ;
PUBLISHED: 2005, SOURCE: HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, VOLUME: 90, ISSUE: 8
INDEXED IN: Scopus WOS
29
TITLE: Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1) G -> C and IVS8(+2) T -> G causing pyruvate kinase deficiency  Full Text
AUTHORS: Manco, L ; Bento, C; Ribeiro, ML ; Tamagnini, G;
PUBLISHED: 2002, SOURCE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 118, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
Page 3 of 4. Total results: 34.