Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations

Haematologica

Volumn 91, Issue 2, 2006, Pages 266-267

  Manco, Licínio ^a,b   Relvas, Luís ^a   Pinto, C Silva ^a   Pereira, Janet ^a   Almeida, A Bessa ^c   Ribeiro, Maria Letícia ^a  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b UNIVERSITY OF COIMBRA   (Portugal)

^c HOSPITAL DONA ESTEFÂNIA   (Portugal)

Author keywords

Alu insertion; Hemolytic anemia; P5'N I gene; Pyrimidine 5' nucleotidase deficiency; RT PCR analysis

Indexed keywords

MESSENGER RNA; PYRIMIDINE 5' NUCLEOTIDE NUCLEOSIDASE;

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD EXAMINATION; CHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ANALYSIS; EXON; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE MUTATION; HEMOLYTIC ANEMIA; HUMAN; MALE; RNA TRANSCRIPTION;

5'-NUCLEOTIDASE; ADOLESCENT; ADULT; AGED; ANEMIA, HEMOLYTIC; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MIDDLE AGED; MUTATION; PORTUGAL;

EID: 33644525006     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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