Title : Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).

Pub. Date : 1995 Feb

PMID : 7860732






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 DNA sequence of one beta-globin gene of the proband revealed two mutations, one for the moderately unstable hemoglobin (Hb) Koln and another for a novel codon 32 cytosine-thymidine-guanine-->cytosine-adenine-guanine transversion encoding a leucine-->glutamine mutation. cytosine-adenine-guanine hemoglobin subunit beta Homo sapiens