Condition: Adenylate Kinase Deficiency, Hemolytic Anemia Due To
rs104894101 in
AK1 gene and
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
PMID 2542324 1989 Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase.
PMID 9432020 1997 Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia.
PMID 12649162 2003 Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia.