COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report

Article

Abstract: Background: Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal

Palabras claves:

COL1A1, collagen, ECUADOR, Osteogenesis imperfecta, splicing

Autores:

Dirani M., Vanessa Romero, Víctor Cuenca

Fuentes:

scopus