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.1095-3C>G p. E366IfsX7 p.Glu366Ilefs*7 splice site mutation. The c.1095-3C>G mutation led to a frame-shift, which created a premature termination codon at the protein level
| Title : Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair\/hypotrichosis: Case report and published work review - Mizukami_2018_J.Dermatol_45_613 |
| Author(s) : Mizukami Y , Hayashi R , Tsuruta D , Shimomura Y , Sugawara K |
| Ref : J Dermatol , 45 :613 , 2018 |
| Abstract : Mizukami_2018_J.Dermatol_45_613 |
| ESTHER : Mizukami_2018_J.Dermatol_45_613 |
| PubMedSearch : Mizukami_2018_J.Dermatol_45_613 |
| PubMedID: 29464811 |
| Gene_locus related to this paper: human-LIPH |