title: New missense homozygous mutation (Q270Ter) in the pyrimidine 5' nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia.
authors.forename: Prashant
authors.initials: P
authors.lastname: Warang
authors.forename: Prabhakar
authors.initials: P
authors.lastname: Kedar
authors.forename: Rakhee
authors.initials: R
authors.lastname: Kar
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Roshan
authors.initials: R
authors.lastname: Colah
mesh_terms: D015720:5'-Nucleotidase / Q000737:chemistry / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics*; D001483:Base Sequence; D018388:Codon, Terminator / Q000235:genetics; D005190:Family; D018698:Glutamic Acid / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007194:India; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense / Q000502:physiology; D055815:Young Adult
chemical_list: D018388:Codon, Terminator; D018698:Glutamic Acid; D015720:5'-Nucleotidase