A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency

British Journal of Haematology

Volumn 110, Issue 4, 2000, Pages 993-997

  Manco, L ^a   Ribeiro, M L ^a   Maximo, V ^a   Almeida, H ^a   Costa, A ^a   Freitas, O ^a   Barbot, J ^a   Abade, A ^a   Tamagnini, G ^a  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

GATA; Gene expression; PKLR gene mutations; Promoter mutation; Pyruvate kinase deficiency

Indexed keywords

MESSENGER RNA; PYRUVATE KINASE; TRANSCRIPTION FACTOR GATA 1;

ADULT; ARTICLE; CASE REPORT; CHILD; ENZYME DEFICIENCY; FEMALE; GENE EXPRESSION; GENETIC TRANSCRIPTION; HEMOLYTIC ANEMIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PORTUGAL; PRIORITY JOURNAL; PROMOTER REGION; RETICULOCYTE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLENECTOMY;

ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; DNA-BINDING PROTEINS; ERYTHROCYTES; ERYTHROID-SPECIFIC DNA-BINDING FACTORS; FEMALE; GATA1 TRANSCRIPTION FACTOR; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; POINT MUTATION; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); PYRUVATE KINASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 0033765506     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.02283.x     Document Type: Article

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