A novel homozygous mutation of PKLR gene in a pyruvate-kinase-deficient Korean family.
Park-Hah
Jeong Ok
JO
Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea. johah@med.yu.ac.kr
Kanno
Hitoshi
H
Kim
Won Duck
WD
Fujii
Hisaichi
H
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics*; D044466:Asian People; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D007723:Korea; D008297:Male; D020125:Mutation, Missense; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics
D011770:Pyruvate Kinase