Gene Locus : human-ABHD5
Mode of mutation : Natural mutant
Disease : Chanarin-Dorfman 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.R114L p.Arg114Leu c.341G>T (mono-alleic) Heterozygote. This patient has CIE but no extracutaneous signs of Chanarin-Dorfman syndrome. Whether or not her mono-allelic ABHD5 mutation contributes to the pathogenisis of Congenital ichthyosiform erythroderma cannot yet be determined
| Title : Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients - Pigg_2016_Acta.Derm.Venereol_96_932 |
| Author(s) : Pigg MH , Bygum A , Ganemo A , Virtanen M , Brandrup F , Zimmer AD , Hotz A , Vahlquist A , Fischer J |
| Ref : Acta Derm Venereol , 96 :932 , 2016 |
| Abstract : Pigg_2016_Acta.Derm.Venereol_96_932 |
| ESTHER : Pigg_2016_Acta.Derm.Venereol_96_932 |
| PubMedSearch : Pigg_2016_Acta.Derm.Venereol_96_932 |
| PubMedID: 27025581 |
| Gene_locus related to this paper: human-ABHD5 |