Associated Papers
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData
Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta.
Schwarze U et al.
American Journal of Medical Genetics. Part A, 2019
Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta.
Barbirato C et al.
Genetics and Molecular Research : Gmr, 2016
Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.
Alkhiary YM et al.
Saudi Journal of Biological Sciences, 2016
27579005 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Select a paper to view details