Gene Locus : No gene locus
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation two third of normal activity Brazzolotto_2021_Pharmacogenomics.J_21_165
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 90
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.L88H Leu88His c.347T>A. Found in a compound heterozygote state with D70G\/A539T (K and Atypycal variant) and deletion of Ile 140 I140del in a 31-year woman with moderate BChE deficiency (1344U\/L)
| Title : Characterization of four BCHE mutations associated with prolonged effect of suxamethonium - Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| Author(s) : Brazzolotto X , Courcelle S , Sauvanet C , Guillon V , Igert A , Kononchik J , Nachon F , Ceppa F , Delacour H |
| Ref : Pharmacogenomics J , 21(2):165-173 : , 2021 |
| Abstract : |
| PubMedSearch : Brazzolotto_2021_Pharmacogenomics.J_21_165 |
| PubMedID: 33024248 |