Gene Locus : human-BAAT
Mode of mutation : Natural mutant
Disease : Familial hypercholanemia
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 :
| Title : Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT - Carlton_2003_Nat.Genet_34_91 |
| Author(s) : Carlton VE , Harris BZ , Puffenberger EG , Batta AK , Knisely AS , Robinson DL , Strauss KA , Shneider BL , Lim WA , Salen G , Morton DH , Bull LN |
| Ref : Nat Genet , 34 :91 , 2003 |
| Abstract : Carlton_2003_Nat.Genet_34_91 |
| ESTHER : Carlton_2003_Nat.Genet_34_91 |
| PubMedSearch : Carlton_2003_Nat.Genet_34_91 |
| PubMedID: 12704386 |
| Gene_locus related to this paper: human-BAAT |