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.346-350delATATA in exon 2 of the gene leading to frameshift and downstream premature termination codon. In 3 sibs, born of consanguineous Pakistani parents, with autosomal recessive hypotrichosis del Ile - LIYTHA LYPCLstop I116YfsX3
| Title : A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis - Ali_2007_Hum.Genet_121_319 |
| Author(s) : Ali G , Chishti MS , Raza SI , John P , Ahmad W |
| Ref : Hum Genet , 121 :319 , 2007 |
| Abstract : Ali_2007_Hum.Genet_121_319 |
| ESTHER : Ali_2007_Hum.Genet_121_319 |
| PubMedSearch : Ali_2007_Hum.Genet_121_319 |
| PubMedID: 17333281 |
| Gene_locus related to this paper: human-LIPH |