Functional significance of mutations in the Snf2 domain of ATRX

Human Molecular Genetics

Volumn 20, Issue 13, 2011, Pages 2603-2610

  Mitson, Matthew ^a   Kelley, Lawrence A ^b   Sternberg, Michael J E ^b   Higgs, Douglas R ^a   Gibbons, Richard J ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b Department of Life Sciences   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATE; DNA; HELICASE; UNCLASSIFIED DRUG; X LINKED MENTAL RETARDATION SYNDROME ASSOCIATED WITH ALPHA THALASSEMIA PROTEIN;

ALPHA THALASSEMIA; ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DNA BINDING; GENE DOSAGE; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ANALYSIS; HUMAN; HYDROLYSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; SITE DIRECTED MUTAGENESIS; X LINKED MENTAL RETARDATION; X LINKED MENTAL RETARDATION SYNDROME ASSOCIATED WITH ALPHA THALASSEMIA;

ALPHA-THALASSEMIA; AMINO ACID SEQUENCE; ANIMALS; CELL LINE; DNA HELICASES; ENZYME ACTIVATION; HUMANS; INSECTS; MENTAL RETARDATION, X-LINKED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PROTEIN CONFORMATION; PROTEIN STABILITY; SEQUENCE ALIGNMENT; TRANSLOCATION, GENETIC; UBIQUITIN-PROTEIN LIGASES;

EID: 79958763042     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr163     Document Type: Article

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