Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood

Clinical Genetics

Volumn 81, Issue 5, 2012, Pages 470-478

  Sasa, G S ^a   Ribes Zamora, A ^a   Nelson, N D ^a   Bertuch, A A ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Aplastic anemia; Bone marrow failure; Dyskeratosis congenita; Revesz syndrome; Telomere; TIN2; TINF2

Indexed keywords

IMMUNOSUPPRESSIVE AGENT; PROTEIN; TELOMERIC REPEAT BINDING FACTOR 1; TIN2 PROTEIN; TINF2 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; B LYMPHOCYTE; CASE REPORT; CELL STRAIN HEK293; CHILD; CHILDHOOD DISEASE; DYSKERATOSIS CONGENITA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE MUTATION; GRANULOCYTE; HUMAN; IMMUNOPRECIPITATION; LYMPHOBLASTOID CELL; LYMPHOCYTE; MALE; MEMORY T LYMPHOCYTE; MISSENSE MUTATION; NATURAL KILLER CELL; NONSENSE MUTATION; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; T LYMPHOCYTE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CELL LINE; CHILD, PRESCHOOL; DYSKERATOSIS CONGENITA; FATAL OUTCOME; FEMALE; GENE EXPRESSION; GENE ORDER; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEIN BINDING; TELOMERE SHORTENING; TELOMERE-BINDING PROTEINS; TELOMERIC REPEAT BINDING PROTEIN 1;

EID: 84859573974     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01658.x     Document Type: Article

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