Associated Papers
Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).
He S et al.
Bmc Medical Genomics, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
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Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1
Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.
Dongerdiye R et al.
Bmc Medical Genomics, 2021
Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).
Dongerdiye R et al.
Journal of Clinical Pathology, 2019
Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.
Abrusci P et al.
Experimental Hematology, 2007
Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia.
Corrons JL et al.
Blood, 2003
[Rare case of hereditary nonspherocytic anemia caused by glyceraldehydephosphate dehydrogenase deficiency in erythrocytes].
Reznik BIa et al.
Problemy Gematologii I Perelivaniia Krovi, 1972
A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia.
Fermo E et al.
Blood Cells, Molecules & Diseases, 0
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