Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis.

del Giudice, E M

Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis. [electronic resource] - British journal of haematology Jun 1996 - 828-34 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0007-1048

10.1046/j.1365-2141.1996.d01-1746.x doi


Amino Acid Sequence
Ankyrins--genetics
Base Sequence
Child
Erythrocyte Membrane--metabolism
Exons
Female
Frameshift Mutation
Humans
Molecular Sequence Data
Mutation
Polymorphism, Genetic
Spherocytosis, Hereditary--genetics