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 : c.1018delT homozygous mutation that generates frame shift and premature termination of protein translation
| Title : MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene - Dweikat_2015_J.Child.Neurol_30_1053 |
| Author(s) : Dweikat IM , Abdelrazeq S , Ayesh S , Jundi T |
| Ref : Journal of Child Neurology , 30 :1053 , 2015 |
| Abstract : Dweikat_2015_J.Child.Neurol_30_1053 |
| ESTHER : Dweikat_2015_J.Child.Neurol_30_1053 |
| PubMedSearch : Dweikat_2015_J.Child.Neurol_30_1053 |
| PubMedID: 25051967 |
| Gene_locus related to this paper: human-SERAC1 |