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. 2011 Jul 22;286(37):32810–32823. doi: 10.1074/jbc.M111.221804

TABLE 1.

Mutations in FBN1 analyzed in this study

Amino acid exchange Nucleotide exchange Exon Domain Clinical consequence Reference no.
N548I (NI) 1643A→T 13 cbEGF4 Classical (62)
R627C (RC) 1879C→T 15 cbEGF6 Classical (63)
C750G (CG) 2248T→A 18 cbEGF7 Classical (63)
G1013R (GR) 3037G→A 24 TB3 Neonatal (64)
C1032Y (CY) 3095G→A 25 cbEGF11 Neonatal (65)
I1048T (IT) 3143T→C 25 cbEGF11 Neonatal (65)
E1073K (EK) 3217G→A 26 cbEGF12 Neonatal (64)
C1182S (CS) 3545G→C 28 cbEGF14 Neonatal (66)