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.688C > T\; p.Q230X p.Gln230X
| Title : Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair\/hypotrichosis in consanguineous families - Ahmad_2018_Congenit.Anom.(Kyoto)_58_24 |
| Author(s) : Ahmad F , Sharif S , Furqan Ubaid M , Shah K , Khan MN , Umair M , Azeem Z , Ahmad W |
| Ref : Congenit Anom (Kyoto) , 58 :24 , 2018 |
| Abstract : Ahmad_2018_Congenit.Anom.(Kyoto)_58_24 |
| ESTHER : Ahmad_2018_Congenit.Anom.(Kyoto)_58_24 |
| PubMedSearch : Ahmad_2018_Congenit.Anom.(Kyoto)_58_24 |
| PubMedID: 28425126 |
| Gene_locus related to this paper: human-LIPH |