Identification of a novel frameshift mutation at codon 53 (-T) in the β-globin gene causing dominantly inherited β-thalassemia in a Chinese Miao family

Blood Cells, Molecules, and Diseases

Volumn 41, Issue 1, 2008, Pages 56-59

  Yi, Peng ^a   Yu, Fang ^b   Huang, Shengwei ^a   Zhong, Cunli ^b   Li, Qiang ^a   Yang, Yuan ^b   Zhang, Wenqing ^a   Xiao, Chenglin ^b   Xu, Xiangmin ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b Department of Family Planning Institute of Guizhou ^*  (China)

Author keywords

globin gene; thalassemia intermedia; Dominantly inherited thalassemia; Frameshift mutation; Haplotype; Nonsense mediated mRNA decay (NMD)

Indexed keywords

BETA GLOBIN; HEMOGLOBIN A2; MESSENGER RNA;

ADOLESCENT; ADULT; ARTICLE; BETA THALASSEMIA; CHINESE; CODON; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD;

ADOLESCENT; ADULT; BASE SEQUENCE; BETA-THALASSEMIA; CHILD; CHINA; CODON; EXONS; FAMILY; FEMALE; FRAMESHIFT MUTATION; GLOBINS; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 44449130819     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2008.02.001     Document Type: Article

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