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.E336X Glu336Ter g.[27606 G>T] c.[1006 G>T] in exon 7
| Title : Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation. - Aggarwal_2012_Eur.J.Med.Genet_55_173 |
| Author(s) : Aggarwal S , Maras JS , Alam S , Khanna R , Gupta SK , Ahuja A |
| Ref : Eur Journal of Medical Genetics , 55 :173 , 2012 |
| Abstract : |
| PubMedSearch : Aggarwal_2012_Eur.J.Med.Genet_55_173 |
| PubMedID: 22373837 |
| Gene_locus related to this paper: human-ABHD5 |