Pedigree Study and Functional Analysis of Novel Germline p. R21Afs MEN1 Mutation in a Multiple Endocrine Neoplasia Type 1 Family

ABSTRACT: We found a novel MEN1 p. R21Afs mutaion in a multiple endocrine neoplasia type 1 family. To investigate the pathogenic function of p.R21Afs MEN1 mutation, the leukocyte transcriptoma profilings derived from MEN1 patients with heterozygote p.R21Afs MEN1 mutation was compared with the unaffected relatives without p.R21Afs MEN1 mutation.

ORGANISM(S): Homo sapiens

PROVIDER: GSE221993 | GEO | 2023/02/01

REPOSITORIES: GEO