Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants

Human Mutation

Volumn 35, Issue 1, 2014, Pages 53-57

  de Garibay, Gorka Ruiz ^a   Acedo, Alberto ^b   García Casado, Zaida ^c   Gutiérrez Enríquez, Sara ^d   Tosar, Alicia ^a   Romero, Atocha ^a   Garre, Pilar ^a   Llort, Gemma ^e   Thomassen, Mads ^f   Díez, Orland ^g   Pérez Segura, Pedro ^a   Díaz Rubio, Eduardo ^a   Velasco, Eladio A ^b   Caldés, Trinidad ^a   de la Hoya, Miguel ^a  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b Universidad de Valladolid y Consejo Superior de Investigaciones Científicas   (Spain)

^c INSTITUTO VALENCIANO DE ONCOLOGÍA   (Spain)

^d UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^e Hospital Universitari Parc Taulí   (Spain)

^f ODENSE UNIVERSITY HOSPITAL   (Denmark)

^g VALL D HEBRON UNIVERSITY HOSPITAL   (Spain)

Author keywords

BRCA2; Capillary electrophoresis; Minigene; QPCR; Splicing; UVs

Indexed keywords

BRCA2 PROTEIN;

ARTICLE; CAPILLARY ELECTROPHORESIS; CLINICAL CLASSIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INTRON; PRACTICE GUIDELINE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

BRCA2; CAPILLARY ELECTROPHORESIS; MINIGENE; QPCR; SPLICING; UVS;

ALTERNATIVE SPLICING; BRCA2 PROTEIN; ELECTROPHORESIS, CAPILLARY; EXONS; GENES, BRCA2; GENETIC TESTING; GENETIC VARIATION; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 84890800443     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22456     Document Type: Article

References (19)

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