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 : 620_627delACACTGA-TinsCTCCTTTCCTTGTG. Found in a homozygous state in patientIII-3 and heterozygous state in his parents andbrother,a deletion of 8 bases (ACACTGAT)and insertion of 14 bases (CTCCTTTCCTTGTG),duplicated from the downstream intron 4([c.620_627delACACTGATinsCTCCTTTCCTTGTG][p.207_209delDTDinsAPFLV]).
| Title : Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair - Horev_2009_J.Am.Acad.Dermatol_61_813 |
| Author(s) : Horev L , Tosti A , Rosen I , Hershko K , Vincenzi C , Nanova K , Mali A , Potikha T , Zlotogorski A |
| Ref : J Am Acad Dermatol , 61 :813 , 2009 |
| Abstract : Horev_2009_J.Am.Acad.Dermatol_61_813 |
| ESTHER : Horev_2009_J.Am.Acad.Dermatol_61_813 |
| PubMedSearch : Horev_2009_J.Am.Acad.Dermatol_61_813 |
| PubMedID: 19766349 |
| Gene_locus related to this paper: human-LIPH |