Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease

Human Mutation

Volumn 31, Issue 1, 2010, Pages 5-10

  Mannini, Linda ^a   Liu, Jinglan ^b   Krantz, Ian D ^b,c   Musio, Antonio ^a,d  

^a CNR   (Italy)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d ISTITUTO TOSCANO TUMORI   (Italy)

Author keywords

Cancer; Cohesin; Cornelia de Lange syndrome; SMC1A

Indexed keywords

COHESIN;

CARCINOGENESIS; CHROMATID; COLORECTAL CANCER; CONGENITAL HEART MALFORMATION; DE LANGE SYNDROME; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; GASTROINTESTINAL DISEASE; GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE LOCUS; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOMIC INSTABILITY; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HIRSUTISM; HUMAN; LIMB MALFORMATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A GENE;

CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; COLORECTAL NEOPLASMS; DE LANGE SYNDROME; HUMANS; MUTATION;

EID: 74049092772     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21129     Document Type: Review

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