Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

Genome Research

Volumn 15, Issue 7, 2005, Pages 967-977

  Alharbi, Khalid K ^a   Aldahmesh, Mohammed A ^a   Spanakis, Emmanuel ^a,f   Haddad, Lema ^c,d,g   Whittall, Roslyn A ^c,d   Chen, Xiao He ^a   Rassoulian, Hamid ^b   Smith, Matt J ^a   Sillibourne, Julie ^a   Ball, Nicola J ^a   Graham, Nikki J ^a   Briggs, Patricia J ^a   Simpson, Iain A ^b   Phillips, David I W ^b   Lawlor, Deborah A ^e   Ye, Shu ^a   Humphries, Stephen E ^c,d   Cooper, Cyrus ^b   Smith, George Davey ^e   Ebrahim, Shah ^e   Eccles, Diana M ^a   Day, Ian N M ^a   more..

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^e UNIVERSITY OF BRISTOL   (United Kingdom)

^f SANOFI   (France)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; AGED; AMPLICON; ARTICLE; BREAST CANCER; CANCER RISK; CANCER SCREENING; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; DISEASE SEVERITY; ELECTROPHORESIS; EXON; FEMALE; GENE SEQUENCE; GENETIC CODE; GENETIC LINKAGE; GENETIC POLYMORPHISM; HUMAN; MALE; MASS SCREENING; MUTATION; POPULATION; PRIORITY JOURNAL; RNA SPLICING; SENSITIVITY ANALYSIS; VALIDATION PROCESS;

EID: 22244476119     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.3313405     Document Type: Article

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