Paucimorphic alleles versus polymorphic alleles and rare mutations in disease causation: Theory, observation and detection

Current Genomics

Volumn 5, Issue 5, 2004, Pages 431-438

  Day, Ian N M ^a   Alharbi, Khalid K ^a   Smith, Matt ^a   Aldahmesh, Mohammed A ^a   Chen, Xiao He ^a   Lotery, Andrew J ^a   Pante de Sousa, Gabriella ^b   Hou, Guangwei ^b   Ye, Shu ^b   Eccles, Diana ^b   Cross, Nicholas C P ^b   Fox, Keith R ^c   Rodriguez, Santiago ^c  

^a UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^b FEDERAL UNIVERSITY OF PARÁ   (Brazil)

^c UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; BRCA1 PROTEIN; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CHECKPOINT KINASE 2; DNA; LOW DENSITY LIPOPROTEIN RECEPTOR; MELANOCORTIN 4 RECEPTOR; PROTEIN P53;

ALLELE; ANALYTICAL EQUIPMENT; BREAST CANCER; CANCER GENETICS; CASE STUDY; CORONARY ARTERY DISEASE; COST BENEFIT ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY STUDY; FEASIBILITY STUDY; GEL ELECTROPHORESIS; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE TECHNOLOGY; GENETIC DATABASE; GENETIC POLYMORPHISM; GENETIC PROCEDURES; GENETIC VARIABILITY; HUMAN; HYPOTHESIS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; REVIEW; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; STATISTICAL ANALYSIS; THEORY;

EID: 3042663163     PISSN: 13892029     EISSN: None     Source Type: Journal    
DOI: 10.2174/1389202043349156     Document Type: Review

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