about
Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in CaucasiansMolecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerancePreponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine.Thiopurine S-methyltransferase deficiency associated with a novel mutation.Association of inosine triphosphatase 94C>A and thiopurine S-methyltransferase deficiency with adverse events and study drop-outs under azathioprine therapy in a prospective Crohn disease study.Allelic variants of the thiopurine S-methyltransferase deficiency in patients with ulcerative colitis and in healthy controlsMolecular diagnosis of thiopurine S-methyltransferase deficiencyAzathioprine-associated acute myeloid leukemia in a patient with Crohn's disease and thiopurine S-methyltransferase deficiency
P921
Q24676047-BE642560-F9FA-4474-B214-A2D123AF058AQ28307567-1A54C5DC-6D94-4AE3-9AA0-BE3935114F2AQ33336860-C0703816-42D6-42BC-B148-8174EE4A42B5Q43148520-1AB7A7BF-C6A4-463F-BE8C-888419B40066Q46743915-796C29C4-42FE-428F-9A54-ABB403573849Q73009506-62067132-9F49-4698-846A-2D3116C9EBDFQ73976693-2FAE5B65-A386-4CBA-A47B-F240312AB52FQ80791114-98F4750C-A10D-4305-A18F-BCF076D12AE3
P921
description
inherited metabolic disease th ...... ocess drugs called thiopurines
@en
name
déficit en thiopurine S méthyltransferase
@fr
thiopurine S-methyltransferase deficiency
@en
type
label
déficit en thiopurine S méthyltransferase
@fr
thiopurine S-methyltransferase deficiency
@en
altLabel
THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
@en
TPMT deficiency
@en
Thiopurines, Poor Metabolism of
@en
poor metabolism of thiopurines-1
@en
prefLabel
déficit en thiopurine S méthyltransferase
@fr
thiopurine S-methyltransferase deficiency
@en
P486
P2892
P31
P486
P492
P5270
MONDO:0012503
P699
DOID:0080172
P7464
thiopurine-s-methyltransferase-deficiency