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.L187QfsX13 P. Leu187GlnfsX13 c.560_578 delTTGCTGATCAAGACAGACC in Exon 4 a homozygote deletion in two 28-month-old Iranian monozygotic twin boys with skin lesions since their birth as non-bullous erythrodermic ichthyosis without any hair, eye, and tooth complications. hepatomegaly
| Title : A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene - Nakhaei_2018_Iran.Biomed.J_22_415 |
| Author(s) : Nakhaei S , Heidary H , Rahimian A , Vafadar M , Rohani F , Bahoosh GR , Amirkashani D |
| Ref : Iran Biomed J , 22 :415 , 2018 |
| Abstract : |
| PubMedSearch : Nakhaei_2018_Iran.Biomed.J_22_415 |
| PubMedID: 29475365 |
| Gene_locus related to this paper: human-ABHD5 |