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.982+5G>T p.M328SfsX41 p.Met328Serfs*41 caused an aberrant splicing event, leading to a frame-shift and a premature termination codon
| Title : Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair - Hayashi_2014_J.Dermatol_41_890 |
| Author(s) : Hayashi R , Inui S , Farooq M , Ito M , Shimomura Y |
| Ref : J Dermatol , 41 :890 , 2014 |
| Abstract : Hayashi_2014_J.Dermatol_41_890 |
| ESTHER : Hayashi_2014_J.Dermatol_41_890 |
| PubMedSearch : Hayashi_2014_J.Dermatol_41_890 |
| PubMedID: 25271093 |
| Gene_locus related to this paper: human-LIPH |