IthaID: 1528



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Yunnanese (Aγδβ)0 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 88 kb
Deletion involves: , δ, β, pseudo β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Zhang JW, Song WF, Zhao YJ, Wu GY, Qiu ZM, Wang FN, Chen SS, Stamatoyannopoulos G, Molecular characterization of a novel form of (A gamma delta beta)zero thalassemia deletion in a Chinese family., Blood, 81(6), 1624-9, 1993 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-06-04 10:37:26 (Show full history)

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