The second case of dominant beta-thalassemia induced by the codon 127 (CAG-->TAG) described as a de novo mutation in a Dutch boy.
Van Weel
M
M
Department of Pediatric Hematology, Leiden University Medical Centre, The Netherlands.
Harteveld
C L
CL
Bernini
L F
LF
Brouwers
T M
TM
Giordano
P C
PC
D000293:Adolescent; D003062:Codon; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics*
D003062:Codon