Observation of the codon 27 (GCC → TCC) δ-thalassemia allele in cis to the IVS-I-6 (T → C) β-thalassemia allele in a family from West Sicily

Hemoglobin

Volumn 25, Issue 4, 2001, Pages 453-455

  Di Girgenti, C ^a   De Angioletti, M ^a   Messineo, R ^a   Carestia, C ^a   Capra, M ^a  

^a CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTIDINE; HEMOGLOBIN; THYMIDINE;

ALLELE; ALPHA THALASSEMIA; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CIS ISOMER; CLINICAL FEATURE; CODON; DNA ISOLATION; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ITALY; MALE; POLYMERASE CHAIN REACTION;

ALLELES; BETA-THALASSEMIA; CODON; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; PHENOTYPE; POINT MUTATION; THALASSEMIA;

EID: 0035677758     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-100107886     Document Type: Article

References (6)

1. 2 β-thalassemia
2. Rapid detection and prenatal diagnosis of β-thalassaemia: Studies in Indian and Cypriot populations in the UK
3. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
4. Rapid and non-radioactive prenatal diagnosis of β thalassaemia and sickle cell disease: Application of the polymerase chain reaction (PCR)
5. Polymorphisms 3′ of the human β-globin gene can be detected by a single polymerase chain reaction amplification product
6. 2 levels