A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma

Journal of Genetics

Volumn 88, Issue 4, 2009, Pages 517-527

  Parsam, Vidya Latha ^a   Kannabiran, Chitra ^a   Honavar, Santosh ^a   Vemuganti, Geeta K ^a   Ali, Mohammad Javed ^a  

^a L V PRASAD EYE INSTITUTE   (India)

Author keywords

Genetic testing; Genetics; Multiplex PCR; Mutations; RB1; Retinoblastoma

Indexed keywords

RETINOBLASTOMA PROTEIN;

ADULT; ARTICLE; CHILD; ECONOMICS; EXON; FEASIBILITY STUDY; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENETIC SCREENING; GENETICS; HUMAN; METHODOLOGY; MIDDLE AGED; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINOBLASTOMA; RNA SPLICING; STOP CODON;

ADULT; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEASIBILITY STUDIES; GENE DELETION; GENE DUPLICATION; GENETIC TESTING; HUMANS; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROMOTER REGIONS, GENETIC; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN; RNA SPLICE SITES; YOUNG ADULT;

EID: 77951883766     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-009-0069-z     Document Type: Article

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