Mutations in the chromatin-associated protein ATRX

Human Mutation

Volumn 29, Issue 6, 2008, Pages 796-802

  Gibbons, Richard J ^a   Wada, Takahito ^b   Fisher, Christopher A ^a   Malik, Nicola ^a   Mitson, Matthew J ^a   Steensma, David P ^c   Fryer, Alan ^d   Goudie, David R ^e   Krantz, Ian D ^f   Traeger Synodinos, Joanne ^g  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Mayo Clinic   (United States)

^d ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF DUNDEE   (United Kingdom)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^g UNIVERSITY OF ATHENS   (Greece)

Author keywords

Alpha thalassemia; ATMDS; ATR X syndrome; ATRX; Chromatin remodeling; X linked mental retardation

Indexed keywords

GENE PRODUCT; PROTEIN ATRX; PROTEIN SNF2;

ALPHA THALASSEMIA; ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME; ALPHA THALASSEMIA MYELODYSPLASTIC SYNDROME; ATRX GENE; CHROMATIN ASSEMBLY AND DISASSEMBLY; DEVELOPMENTAL DISORDER; DNA METHYLATION; FACE DYSMORPHIA; GENE; GENE EXPRESSION; GENE MUTATION; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MENTAL DEFICIENCY; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FAMILY; REVIEW;

ALPHA-THALASSEMIA; BASE SEQUENCE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CODON, NONSENSE; DNA HELICASES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; NUCLEAR PROTEINS; PROTEIN STRUCTURE, TERTIARY;

EID: 44849092682     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20734     Document Type: Review

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