A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period.

Authors :: Liu S
Jiang H
Huang LY
Li DZ
Source :: Annals of hematology [Ann Hematol] 2017 Jun; Vol. 96 (6), pp. 1067-1068. Date of Electronic Publication: 2017 Mar 09.
Publication Year :: 2017

Subjects :: Ankyrins chemistry
Blood Transfusion
DNA Mutational Analysis
Exons genetics
Humans
Infant, Newborn
Infant, Premature
Jaundice, Neonatal etiology
Jaundice, Neonatal therapy
Spherocytosis, Hereditary blood
Spherocytosis, Hereditary therapy
Amino Acid Substitution
Ankyrins genetics
Infant, Premature, Diseases genetics
Mutation, Missense
Point Mutation
Spherocytosis, Hereditary genetics

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