A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

Human Molecular Genetics

Volumn 17, Issue 24, 2008, Pages 3847-3853

  Knight, Melanie A ^a   Hernandez, Dena ^a   Diede, Scott J ^b,c   Dauwerse, Hans G ^d   Rafferty, Ian ^a   Van de leemput, Joyce ^a   Forrest, Susan M ^e   Gardner, R J Mckinlay ^f,g   Storey, Elsdon ^f,h   Van Ommen, Gert Jan B ^d   Tapscott, Stephen J ^c   Fischbeck, Kenneth H ^a   Singleton, Andrew B ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c Fred Hutchinson Cancer Research Center   (United States)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

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

^f Genetic Health Services Victoria   (Australia)

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

^h MONASH UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DIACYLGLYCEROL LIPASE ALPHA SUBUNIT; GENOMIC DNA; LIPOPROTEIN LIPASE; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 11Q; CHROMOSOME DUPLICATION; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FREQUENCY; GENETIC LINKAGE; GENOTYPE; HUMAN; NEUROMODULATION; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PURKINJE CELL; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR DEGENERATION; SYNAPSE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; GENE DUPLICATION; HUMANS; LINKAGE (GENETICS); MALE; MULTIGENE FAMILY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPINOCEREBELLAR ATAXIAS;

EID: 57149108745     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn283     Document Type: Article

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