Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish

We describe the cellular and molecular biologic studies of the erythrocyte pyruvate kinase (PK) deficiency of the Amish deme in Pennsylvania. Nucleotide sequencing of the patient's PK gene showed a point mutation, CGC to CAC, corresponding to no. 1436 from the translational initiation site of t...

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Veröffentlicht in:	Blood 1994-04, Vol.83 (8), p.2311-2316
Hauptverfasser:	KANNO, H, BALLAS, S. K, MIWA, S, FUJII, H, BOWMAN, H. S
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence Anemias. Hemoglobinopathies Base Sequence Biological and medical sciences Diseases of red blood cells Erythrocytes - enzymology Ethnic Groups Female Hematologic and hematopoietic diseases Humans Male Medical sciences Molecular Sequence Data Pedigree Point Mutation Polymerase Chain Reaction Potassium - metabolism Pyruvate Kinase - deficiency Pyruvate Kinase - genetics Structure-Activity Relationship
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