DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome

Arai, Y; Umeyama, K; Okazaki, N; Nakano, K; Nishino, K; Nagashima, H; Ohgane, J

Ohgane, J (corresponding author), Meiji Univ, Sch Agr, Dept Life Sci, Lab Genom Funct Engn, Kawasaki, Kanagawa 2148571, Japan.

SCIENTIFIC REPORTS, 2020; 10 (1):

Abstract

Fibrillin-1 (FBN1) is responsible for haploinsufficient and autosomal dominant Marfan syndrome. Even in the same Marfan pedigree, penetrance and expre......

Full Text Link