Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith- Magenis syndrome

American Journal of Medical Genetics

Volumn 87, Issue 4, 1999, Pages 342-348

  Elsea, Sarah H ^a,b   Mykytyn, Kirk ^c   Ferrell, Katherine ^d   Coulter, Kathryn L ^c   Das, Parimal ^e   Dubiel, Wolfgang ^d   Patel, Pragna I ^e   Metherall, James E ^c  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d HUMBOLDT UNIVERSITY   (Germany)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Chromosome band 17p11.2; SGN3; Signalosome; Smith Magenis syndrome

Indexed keywords

PROTEASOME;

ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 17; CHROMOSOME BAND; DIFFERENTIATION; EMBRYO DEVELOPMENT; GENETIC TRANSFECTION; HEMIZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SMITH MAGENIS SYNDROME;

ABNORMALITIES, MULTIPLE; ANIMALS; BLOTTING, WESTERN; CELLS, CULTURED; CHO CELLS; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; CRICETINAE; DNA; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; HUMANS; HYBRID CELLS; LUCIFERASES; LYMPHOCYTES; MALE; MENTAL RETARDATION; NF-KAPPA B; NUCLEAR PROTEINS; PROTEIN KINASES; RECOMBINANT FUSION PROTEINS; SYNDROME;

EID: 0032732145     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991203)87:4<342::AID-AJMG12>3.0.CO;2-A     Document Type: Article

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