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 :
child with MEGD(H)EL syndrome with infantile hepatopathy, neurodevelopmental delays, characteristic biochemical abnormalities, and biallelic novel SERAC1 mutations: (1) deletion of (at least) exons 2-4, pathogenic\; and (2) c.1601A>T (p.H534L), likely pathogenic.
| Title : Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency - Yuen_2022_Am.J.Med.Genet.A_188_2760 |
| Author(s) : Yuen L , Sahai I , O'Grady L , Selig M , Walker MA , Shah U , Misdraji J |
| Ref : American Journal of Medicine Genet A , 188 :2760 , 2022 |
| Abstract : |
| PubMedSearch : Yuen_2022_Am.J.Med.Genet.A_188_2760 |
| PubMedID: 35781780 |
| Gene_locus related to this paper: human-SERAC1 |