Implications of gene copy-number variation in health and diseases

Journal of Human Genetics

Volumn 57, Issue 1, 2012, Pages 6-13

  Almal, Suhani H ^a   Padh, Harish ^a  

^a B V PATEL PHARMACEUTICAL EDUCATION AND RESEARCH DEVELOPMENT PERD CENTRE   (India)

Author keywords

CNV; diseases; gene copy number; genetic variants; health; neurodisorders; pharmacogenetics; SNP

Indexed keywords

AMYLASE; AMYLOID PRECURSOR PROTEIN; BETA DEFENSIN; CHEMOKINE RECEPTOR CCR5; COMPLEMENT COMPONENT C4A; COMPLEMENT COMPONENT C4B; CYTOCHROME P450 2A6; FC RECEPTOR; FC RECEPTOR IIIB; GLUTATHIONE TRANSFERASE; GLUTATHIONE TRANSFERASE M1; GLUTATHIONE TRANSFERASE P1; GLUTATHIONE TRANSFERASE T1; GLYCOGEN SYNTHASE KINASE 3BETA; GUANOSINE TRIPHOSPHATASE; LOW DENSITY LIPOPROTEIN RECEPTOR; MACROPHAGE INFLAMMATORY PROTEIN 1ALPHA; METHYL CPG BINDING PROTEIN 2; NEUREXIN; NICOTINE; PROTEIN 14 3 3; SULFATE; UNCLASSIFIED DRUG;

ACQUIRED IMMUNE DEFICIENCY SYNDROME; ALZHEIMER DISEASE; ASTHMA; ATHEROSCLEROTIC CARDIOVASCULAR DISEASE; AUTISM; BIPOLAR DISORDER; BREAST CANCER; CANCER RISK; COPY NUMBER VARIATION; CROHN DISEASE; DRUG METABOLISM; FAMILIAL CANCER; FAMILIAL HYPERCHOLESTEROLEMIA; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GLOMERULONEPHRITIS; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; INDEL MUTATION; MENTAL DEFICIENCY; MISSENSE MUTATION; NEOPLASM; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PANCREATITIS; PARKINSON DISEASE; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PSORIASIS; REVIEW; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; SYSTEMIC LUPUS ERYTHEMATOSUS;

DISEASE; DNA COPY NUMBER VARIATIONS; GENETIC PREDISPOSITION TO DISEASE; HEALTH; HUMANS; PHARMACEUTICAL PREPARATIONS;

EID: 84856244406     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.108     Document Type: Review

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