Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.3.1.108 (TAT)
2,389 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 73-year-old female of Dutch descent was referred for investigation of a high oxygen affinity hemoglobin variant. The beta-globin gene was amplified using the polymerase chain reaction. Direct nucleotide sequencing of the polymerase chain reaction amplified DNA revealed that she is heterozygous for a novel beta-globin gene mutation at codon 139, AAT-->TAT. The resulting hemoglobin variant has been designated Hb Aurora [beta 139 (H17) Asn-->Tyr].
...
PMID:Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr]. 871 92