Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome

American Journal of Human Genetics

Volumn 84, Issue 6, 2009, Pages 728-739

  Armistead, Joy ^a,b   Khatkar, Sunita ^a,b   Meyer, Britta ^c   Mark, Brian L ^a   Patel, Nehal ^a,b   Coghlan, Gail ^a,b   Lamont, Ryan E ^a,b   Liu, Shuangbo ^a   Wiechert, Jill ^a,b   Cattini, Peter A ^a,b   Koetter, Peter ^c   Wrogemann, Klaus ^a,b   Greenberg, Cheryl R ^a,b   Entian, Karl Dieter ^c   Zelinski, Teresa ^a,b   Triggs Raine, Barbara ^a,b  

^a UNIVERSITY OF MANITOBA   (Canada)

^b MANITOBA INSTITUTE OF CHILD HEALTH   (Canada)

^c GOETHE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIM EMG1; RIBOSOME PROTEIN; RNA 18S; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; BOWEN CONRADI SYNDROME; CAUSAL ATTRIBUTION; CHROMOSOME 12P; CONTROLLED STUDY; DIMERIZATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; HUMAN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RIBOSOME; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; ANIMALS; BIOGENESIS; CASE-CONTROL STUDIES; CELL LINE; CHROMOSOMES, HUMAN, PAIR 12; CRICETINAE; DNA-DIRECTED RNA POLYMERASES; FEMALE; FETAL GROWTH RETARDATION; FIBROBLASTS; GENES, RECESSIVE; HUMANS; IMMUNOBLOTTING; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN CONFORMATION; PSYCHOMOTOR DISORDERS; RIBOSOMES; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TWO-HYBRID SYSTEM TECHNIQUES;

MAMMALIA;

EID: 66449083254     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.04.017     Document Type: Article

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