Liu, Hongyan

[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene]. [electronic resource] - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics Jan 2020 - 17-20 p. digital

Publication Type: Case Reports; Journal Article

1003-9406

10.3760/cma.j.issn.1003-9406.2020.01.005 doi


Codon, Nonsense--genetics
Genetic Variation
HEK293 Cells
Humans
Mutation--genetics
Pedigree
Plasmids
RNA Splicing
Spectrin--genetics
Spherocytosis, Hereditary--genetics
Transfection