Gene Locus : human-LIPH
Mode of mutation : Natural mutant
Disease : Hypotrichosis
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 : c.619G>C\; p.D207H\; p.Asp207His compound heterozygote with c.742C>A (p.His248Asn)
| Title : The beta9 loop domain of PA-PLA1alpha has a crucial role in autosomal recessive woolly hair\/hypotrichosis - |
| Author(s) : Shinkuma S , Inoue A , Aoki J , Nishie W , Natsuga K , Ujiie H , Nomura T , Abe R , Akiyama M , Shimizu H |
| Ref : Journal of Investigative Dermatology , 132 :2093 , 2012 |
| PubMedID: 22475755 |
| Gene_locus related to this paper: human-LIPH |