A new alpha2-globin gene [codon 90 (AAG --> TAG)] nonsense mutation.
Twomey
Andrea P
AP
Clinical Genetics Laboratory, Monash Medical Centre, Clayton, Victoria, Australia.
Brasch
Janice M
JM
Betheras
F Rex
FR
Bowden
Donald K
DK
D000328:Adult; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D005192:Family Health; D005260:Female; D005914:Globins / Q000235:genetics*; D006447:Hemoglobin H / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics
D018389:Codon, Nonsense; D005914:Globins; D006447:Hemoglobin H