Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia

British Journal of Haematology

Volumn 105, Issue 3, 1999, Pages 596-598

  Kugler, Wilfried ^a   Laspe, Petra ^a   Stahl, Markus ^a   Schröter, Werner ^a   Lakomek, Max ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

Compound heterozygosity; Haemolytic anaemia; Promoter mutation; Pyruvate kinase; Reverse transcription polymerase chain reaction

Indexed keywords

HEMOGLOBIN; PYRUVATE KINASE;

ALLELE; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; EXON; GENE LOCATION; GENE MUTATION; HEMOLYTIC ANEMIA; HETEROZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

EID: 0033055285     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1999.01386.x     Document Type: Article

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