Application of multiplex ligation-dependent probe amplification to screen for β-globin cluster deletions: Detection of two novel deletions in a multi ethnic population

Hemoglobin

Volumn 37, Issue 3, 2013, Pages 241-256

  Cui, Jialing ^a   Azimi, Mahin ^a   Baysdorfer, Christoph ^b   Vichinsky, Elliott P ^a   Hoppe, Carolyn C ^a  

^a CHILDREN S HOSPITAL OAKLAND   (United States)

^b CALIFORNIA STATE UNIVERSITY   (United States)

Author keywords

Globin; Thalassemia ( thal); Deletion; Hereditary persistence of fetal hemoglobin (HPFH); Multiplex ligation dependent probe amplification (MLPA)

Indexed keywords

HEMOGLOBIN A2; HEMOGLOBIN BETA CHAIN; HEMOGLOBIN F;

ADULT; ARTICLE; BETA THALASSEMIA; CHILD; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; GENE CLUSTER; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INFANT; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; BASE SEQUENCE; BETA-GLOBINS; BETA-THALASSEMIA; CHILD; CONTINENTAL POPULATION GROUPS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

EID: 84877838348     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2013.782461     Document Type: Article

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