Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL syndrome
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.P267LfsX10 p.Pro267LeufsTer10 c.799_800delC two Turkish siblings
| Title : Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation - Unal_2015_Turk.J.Pediatr_57_388 |
| Author(s) : Unal O , Ozgul RK , Yucel D , Yalnizoglu D , Tokatli A , Sivri HS , Hismi B , Coskun T , Dursun A |
| Ref : Turk J Pediatr , 57 :388 , 2015 |
| Abstract : Unal_2015_Turk.J.Pediatr_57_388 |
| ESTHER : Unal_2015_Turk.J.Pediatr_57_388 |
| PubMedSearch : Unal_2015_Turk.J.Pediatr_57_388 |
| PubMedID: 27186703 |
| Gene_locus related to this paper: human-SERAC1 |