The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome

Hum Mutat. 2000 Mar;15(3):298. doi: 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU19>3.0.CO;2-O.

Authors

M Ikebuchi¹, T Yamamoto, H Chikumi, Y Tanaka, E Nanba, H Kuroda, S Ohgi

Affiliation

¹ 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.

PMID: 10679954
DOI: 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU19>3.0.CO;2-O

No abstract available

MeSH terms

Adult
Amino Acid Substitution
Arginine / genetics
Chromosomes, Human, Pair 15
Fibrillin-1
Fibrillins
Histidine / genetics
Humans
Marfan Syndrome / genetics*
Microfilament Proteins / genetics*
Middle Aged
Molecular Sequence Data
Mutation, Missense
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational

Substances

FBN1 protein, human
Fibrillin-1
Fibrillins
Microfilament Proteins
Histidine
Arginine

Associated data

GENBANK/L13923