| Title : New allele at cholinesterase locus 1 - Garry_1976_J.Med.Genet_13_38 |
| Author(s) : Garry PJ , Dietz AA , Lubrano T , Ford PC , James K , Rubinstein HM |
| Ref : Journal of Medical Genetics , 13 :38 , 1976 |
|
Abstract :
A family (H-J pedigree) segregating for the A and F alleles at cholinesterase locus 1 is described. Apparent anomalous results led to the recognition of a new allele (E1j) also segregating in the family. The data are consistent with the hypothesis that the the E1j causes reduction of 'usual' (E1u) molecules by about 66%. Whether this is because of retarded synthesis or accelerated degradation of serum cholinesterase remains to be determined. |
| PubMedSearch : Garry_1976_J.Med.Genet_13_38 |
| PubMedID: 1271425 |
| Mutation | E497V\/A539T_human-BCHE E497V_human-BCHE |
Garry PJ, Dietz AA, Lubrano T, Ford PC, James K, Rubinstein HM (1976)
New allele at cholinesterase locus 1
Journal of Medical Genetics
13 :38
Garry PJ, Dietz AA, Lubrano T, Ford PC, James K, Rubinstein HM (1976)
Journal of Medical Genetics
13 :38