SEPN1

AcronymDefinition
SEPN1Selenoprotein N, 1
References in periodicals archive ?
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Rigid spine" muskuler distrofi SEPN1 genindeki mutasyonlar sonucu ortaya cikan otozomal cekinik gecisli bir KMD'dir (28).
Genetic screening of genes causing hereditary skeletal and cardiomyopathies was performed using targeted next-generation sequencing, and the screened gene panel included SGCD , TCAP , TRIM32 , TTN , FKTN , MYOT , LMNA , CAV3 , EMD , FHL1 , LAMA2 , ITGA7 , SEPN1 , ACTA1 , DES , CRYAB , LDB3 , BAG3 , STA , DMD , MYH7 , and LAMP2 .