Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1 , SRPK2 , SYPL , LAMB1 , NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in...

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Veröffentlicht in:	European journal of human genetics : EJHG 2005-02, Vol.13 (2), p.198-207
Hauptverfasser:	Bonora, Elena, Lamb, Janine A, Barnby, Gabrielle, Sykes, Nuala, Moberly, Thomas, Beyer, Kim S, Klauck, Sabine M, Poustka, Firtz, Bacchelli, Elena, Blasi, Francesca, Maestrini, Elena, Battaglia, Agatino, Haracopos, Demetrios, Pedersen, Lennart, Isager, Torben, Eriksen, Gunna, Viskum, Birgitte, Sorensen, Ester-Ulsted, Brondum-Nielsen, Karen, Cotterill, Rodney, Engeland, Herman von, Jonge, Maretha de, Kemner, Chantal, Steggehuis, Karlijn, Scherpenisse, Margret, Rutter, Michael, Bolton, Patrick F, Parr, Jeremy R, Poustka, Annemarie, Bailey, Anthony J, Monaco, Anthony P
Format:	Artikel
Sprache:	eng
Schlagworte:	Association analysis Autism Autistic Disorder - genetics Bioinformatics Biomedical and Life Sciences Biomedicine Cell Adhesion Molecules - genetics Child & adolescent psychiatry Chromosome 7 Chromosomes, Human, Pair 7 - genetics Cytogenetics Diabetes Female Gene Expression Gene Expression Regulation - genetics Gene mapping Genes Genetic analysis Genetic Predisposition to Disease - genetics Genetic variance Genetics Genomes Genomics Human Genetics Humans Identification Kinases Lamin Type B - genetics Male Mutation Promoter Regions, Genetic - genetics Proteins Quantitative Trait Loci - genetics Studies Susceptibility Untranslated Regions - genetics
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