Novel beta-thalassemia mutation in a beta-thalassemia intermedia patient.
Waye
J S
JS
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Health Sciences Corporation, Ontario, Canada. wayej@fhs.csu.mcmaster.ca
Eng
B
B
Patterson
M
M
Reis
M D
MD
Macdonald
D
D
Chui
D H
DH
D020121:5' Untranslated Regions / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution; D001803:Blood Transfusion; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D012045:Regulatory Sequences, Nucleic Acid; D013156:Splenectomy; D017086:beta-Thalassemia / Q000235:genetics* / Q000601:surgery / Q000628:therapy
D020121:5' Untranslated Regions; D005914:Globins