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Volumn 84, Issue 1, 1999, Pages 90-92
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C→T mutation at -158 (G)γ HPFH associated with 4 bp deletion (-225- 222) in the promoter region of the (A)γ gene in homozygous β0 39 nonsense thalassemia [3]
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Author keywords
(A) gene; 158 (G) HPFH; Homozygous 039 thalassemia; Thalassemia intermedia
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Indexed keywords
BETA GLOBIN;
CYTOSINE;
HEMOGLOBIN F;
THYMINE;
GLOBIN;
ADULT;
AMINO ACID SUBSTITUTION;
BETA THALASSEMIA;
CASE REPORT;
CAUCASIAN;
CONTROLLED STUDY;
GENE DELETION;
HETEROZYGOTE;
HOMOZYGOTE;
HUMAN;
LETTER;
MALE;
NONSENSE MUTATION;
PROMOTER REGION;
SPAIN;
THALASSEMIA MAJOR;
THALASSEMIA MINOR;
CODON;
FEMALE;
GENE EXPRESSION REGULATION;
GENETICS;
HAPLOTYPE;
PHENOTYPE;
POINT MUTATION;
ADULT;
BETA-THALASSEMIA;
CODON;
FEMALE;
FETAL HEMOGLOBIN;
GENE EXPRESSION REGULATION, DEVELOPMENTAL;
GLOBINS;
HAPLOTYPES;
HOMOZYGOTE;
HUMANS;
MALE;
PHENOTYPE;
POINT MUTATION;
PROMOTER REGIONS (GENETICS);
SEQUENCE DELETION;
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EID: 0032616646
PISSN: 03906078
EISSN: None
Source Type: Journal
DOI: None Document Type: Letter |
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Times cited : (3)
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References (10)
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