A novel beta-thalassemia intermedia phenotype containing Nt494+129T-->C and NT494+132C-->A mutations in cis and a Nt168C-->T (beta(o) 39 point) mutation in trans.
Heath
J A
JA
Beaverson
K
K
Giardina
P
P
Boehm
C
C
Cutting
G
G
D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D010290:Parents; D010641:Phenotype; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins