TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

American Journal of Human Genetics

Volumn 82, Issue 2, 2008, Pages 501-509

  Savage, Sharon A ^a   Giri, Neelam ^a   Baerlocher, Gabriela M ^b,c   Orr, Nick ^a   Lansdorp, Peter M ^c   Alter, Blanche P ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b UNIVERSITY OF BERN   (Switzerland)

^c BRITISH COLUMBIA CANCER AGENCY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

TELOMERASE REVERSE TRANSCRIPTASE; TELOMERE BINDING PROTEIN; TINF2 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE MARROW DEPRESSION; CHROMOSOME 14Q; CHROMOSOME 2P; CONTROLLED STUDY; DIAGNOSTIC TEST; DKC1 GENE; DYSKERATOSIS CONGENITA; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC LINKAGE; GERM LINE; HUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; TELOMERE; TERC GENE; TERT GENE; TINF2 GENE; ADOLESCENT; ADULT; CHILD; CHROMOSOME 14; CHROMOSOME MAP; DNA SEQUENCE; GENETICS; MOLECULAR GENETICS; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; DYSKERATOSIS CONGENITA; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; TELOMERE; TELOMERE-BINDING PROTEINS;

EID: 40749085700     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.10.004     Document Type: Article

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