The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome.
Ikebuchi
M
M
The Second Department of Surgery (M.I., Y.T., H.K., S.O.), the Third Department of Internal Medicine (H.C.), Faculty of Medicine, and Gene Research Center (T.Y., E.N.), Tottori University.
Yamamoto
T
T
Chikumi
H
H
Tanaka
Y
Y
Nanba
E
E
Kuroda
H
H
Ohgi
S
S
D000328:Adult; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D002884:Chromosomes, Human, Pair 15; D000071838:Fibrillin-1; D000071837:Fibrillins; D006639:Histidine / Q000235:genetics; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D054392:Adipokines
D001120:Arginine; D000071838:Fibrillin-1; D000071837:Fibrillins; D006639:Histidine; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines