Mutation nomenclature: nicknames, systematic names, and unique identifiers.
Beutler
E
E
Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA.
McKusick
V A
VA
Motulsky
A G
AG
Scriver
C R
CR
Hutchinson
F
F
D000595:Amino Acid Sequence; D001483:Base Sequence; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D018076:DNA, Complementary; D004798:Enzymes / Q000235:genetics; D005914:Globins / Q000235:genetics; D006801:Humans; D009154:Mutation; D017354:Point Mutation; D009626:Terminology as Topic
C505032:CFTR protein, human; D018076:DNA, Complementary; D004798:Enzymes; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005914:Globins