Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

American Journal of Human Genetics

Volumn 82, Issue 3, 2008, Pages 673-684

  Berkovic, Samuel F ^a,b,c   Dibbens, Leanne M ^d,e   Oshlack, Alicia ^f   Silver, Jeremy D ^b,f   Katerelos, Marina ^g   Vears, Danya F ^a,b   Lüllmann Rauch, Renate ^h   Blanz, Judith ⁱ   Zhang, Ke Wei ^a   Stankovich, Jim ^f,j   Kalnins, Renate M ^c   Dowling, John P ^k   Andermann, Eva ^l   Andermann, Frederick ^l   Faldini, Enrico ^m   D'Hooge, Rudi ^m   Vadlamudi, Lata ^a,b   Macdonell, Richard A ^c   Hodgson, Bree L ^d   Bayly, Marta A ^d   Savige, Judy ^a   Mulley, John C ^d,e,n   Smyth, Gordon K ^f   Power, David A ^c,g   Saftig, Paul ^h   Bahlo, Melanie ^f   more..

^a NORTHERN HEALTH   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c AUSTIN HEALTH   (Australia)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^e UNIVERSITY OF ADELAIDE   (Australia)

^f WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^g BURNET INSTITUTE   (Australia)

^h UNIVERSITY OF KIEL   (Germany)

ⁱ UNIVERSITY OF GÖTTINGEN   (Germany)

^j UNIVERSITY OF TASMANIA   (Australia)

^k ALFRED HOSPITAL   (Australia)

^l MCGILL UNIVERSITY   (Canada)

^m UNIVERSITY OF LEUVEN   (Belgium)

ⁿ UNIVERSITY OF ADELAIDE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN LIMP2; PROTEIN SCARB2; SCAVENGER RECEPTOR B; LYSOSOME ASSOCIATED MEMBRANE PROTEIN; SCARB2 PROTEIN, HUMAN; SCAVENGER RECEPTOR; UNCLASSIFIED DRUG;

ACTION MYOCLONUS RENAL FAILURE SYNDROME; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DOWN REGULATION; FEMALE; GENE EXPRESSION; GENE MAPPING; GLOMERULOSCLEROSIS; HUMAN; MALE; MICROARRAY ANALYSIS; MOUSE; MUTATIONAL ANALYSIS; MYOCLONUS EPILEPSY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; CEREBELLUM CORTEX; CHROMOSOME 4; CHROMOSOME MAP; DNA MICROARRAY; GENETIC LINKAGE; GENETICS; GENOTYPE; GLOMERULONEPHRITIS; MOUSE MUTANT; PATHOLOGY; RECESSIVE GENE;

ANIMALIA;

ANIMALS; CEREBELLAR CORTEX; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; GENE EXPRESSION; GENES, RECESSIVE; GENOTYPE; GLOMERULONEPHRITIS; HUMANS; LINKAGE (GENETICS); LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MICE; MICE, KNOCKOUT; MYOCLONIC EPILEPSIES, PROGRESSIVE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; RECEPTORS, SCAVENGER;

EID: 40849144062     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.12.019     Document Type: Article

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