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 : pK104X p.Lys104Ter c.310A>T p.Lys104Ter. Found in a compound heterozygote patient with c.609+5_609+8del mutation
| Title : MEGDEL Syndrome: Expanding the Phenotype and New Mutations - |
| Author(s) : Sequeira S , Rodrigues M , Jacinto S , Wevers RA , Wortmann SB |
| Ref : Neuropediatrics , 48 :382 , 2017 |
| PubMedID: 28505671 |
| Gene_locus related to this paper: human-SERAC1 |