A novel homozygous mutation of PKLR gene in a pyruvate-kinase-deficient Korean family

Acta Haematologica

Volumn 113, Issue 3, 2005, Pages 208-211

  Jeong, Ok Park Hah ^a   Kanno, Hitoshi ^c   Won, Duck Kim ^b   Fujii, Hisaichi ^c  

^a Yeungnam University College of Medicine   (South Korea)

^b Dongguk University College of Medicine   (South Korea)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PYRUVATE KINASE;

ANALYTIC METHOD; ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; ELECTROPHORESIS; ENZYME ACTIVITY; ENZYME PURIFICATION; FAMILY HISTORY; FAMILY STUDY; GENE MUTATION; GENOME ANALYSIS; HEMOLYSIS; HOMOZYGOSITY; HUMAN; KOREA; LABORATORY TEST; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; KOREA; MALE; MUTATION, MISSENSE; PYRUVATE KINASE;

EID: 18644376754     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000084453     Document Type: Article

References (15)

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