Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease :
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.G339R p.Gly339Arg c.1015G>C mutation located on exon 10 of the SERAC1 two male siblings of consanguineous Turkish parents
| Title : A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing - Alagoz_2020_Exp.Ther.Med_19_3505 |
| Author(s) : Alagoz M , Kherad N , Turkmen S , Bulut H , Yuksel A |
| Ref : Exp Ther Med , 19 :3505 , 2020 |
| Abstract : Alagoz_2020_Exp.Ther.Med_19_3505 |
| ESTHER : Alagoz_2020_Exp.Ther.Med_19_3505 |
| PubMedSearch : Alagoz_2020_Exp.Ther.Med_19_3505 |
| PubMedID: 32346411 |
| Gene_locus related to this paper: human-SERAC1 |