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 :
homozygous nonsense mutation (c.1379G > A\; p.W460X)consanguineous family with three affected children. homozygous state in the three affected children and was heterozygous in the parents
| Title : First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene - Felhi_2022_Int.J.Dev.Neurosci_82_736 |
| Author(s) : Felhi R , Monastiri K , Ben Hamida H , Ammar M , Chioukh FZ , Tabarki B , Chouchen J , Fakhfakh F , Tlili A , Mkaouar-Rebai E |
| Ref : Int J Developmental Neuroscience , 82 :736 , 2022 |
| Abstract : |
| PubMedSearch : Felhi_2022_Int.J.Dev.Neurosci_82_736 |
| PubMedID: 35943861 |
| Gene_locus related to this paper: human-SERAC1 |