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.686delAins18 p.D229GfsX22 p.Asp229GlyfsX22
| Title : Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair\/hypotrichosis - |
| Author(s) : Ito T , Shimomura Y , Hayashi R , Tokura Y |
| Ref : J Dermatol , 42 :752 , 2015 |
| PubMedID: 25899282 |
| Gene_locus related to this paper: human-LIPH |