Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

American Journal of Human Genetics

Volumn 79, Issue 6, 2006, Pages 1119-1124

  Tarpey, Patrick S ^a   Stevens, Claire ^a   Teague, Jon ^a   Edkins, Sarah ^a   O'Meara, Sarah ^a   Avis, Tim ^a   Barthorpe, Syd ^a   Buck, Gemma ^a   Butler, Adam ^a   Cole, Jennifer ^a   Dicks, Ed ^a   Gray, Kristian ^a   Halliday, Kelly ^a   Harrison, Rachel ^a   Hills, Katy ^a   Hinton, Jonathon ^a   Jones, David ^a   Menzies, Andrew ^a   Mironenko, Tatiana ^a   Perry, Janet ^a   Raine, Keiran ^a   Richardson, David ^a   Shepherd, Rebecca ^a   Small, Alexandra ^a   Tofts, Calli ^a   Varian, Jennifer ^a   West, Sofie ^a   Widaa, Sara ^a   Yates, Andy ^a   Catford, Rachael ^b   Butler, Julia ^d   Mallya, Uma ^e   Moon, Jenny ^e   Luo, Ying ^e   Dorkins, Huw ^g   Thompson, Deborah ^f   Easton, Douglas F ^f   Wooster, Richard ^a   Bobrow, Martin ^e   Carpenter, Nancy ^h   Simensen, Richard J ^d   Schwartz, Charles E ^d   Stevenson, Roger E ^d   Turner, Gillian ⁱ   Partington, Michael ⁱ   Gecz, Jozef ^b,c   Stratton, Michael R ^a,j   Futreal, P Andrew ^a   Raymond, F Lucy ^e   more..

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b Women's and Children's Hospital

^c UNIVERSITY OF ADELAIDE   (Australia)

^d GREENWOOD GENETIC CENTER   (United States)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^g NORTHWICK PARK HOSPITAL   (United Kingdom)

^h Center for Genetic Testing   (United States)

ⁱ Hunter Health   (Australia)

^j WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTIN; ADAPTOR PROTEIN; CELL PROTEIN; CLATHRIN; PROTEIN SUBUNIT; UNCLASSIFIED DRUG;

ADULT; AP1S2 GENE; ARTICLE; CELL VACUOLE; CHILD; CONTROLLED STUDY; CYTOPLASM; ENDOCYTOSIS; ENDOSOME; EXON; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; GOLGI COMPLEX; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; RNA SPLICING; SYNAPSE; WALKING; X CHROMOSOME; X LINKED MENTAL RETARDATION;

EID: 33845207302     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/510137     Document Type: Article

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