Publications:

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.

Human Molecular Genetics

Ohkawara, Bisei B; Cabrera-Serrano, Macarena M; Nakata, Tomohiko T; Milone, Margherita M; Asai, Nobuyuki N; Ito, Kenyu K; Ito, Mikako M; Masuda, Akio A; Ito, Yasutomo Y; Engel, Andrew G AG; Ohno, Kinji K

Publication Date: 2014-04-01

Variant appearance in text: LRP4: Ile1287Ala

PubMed Link: 24234652

Variant Present in the following documents:

• Main text

View BVdb publication page