Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

Human Molecular Genetics

Volumn 16, Issue 13, 2007, Pages 1619-1629

  Walne, Amanda J ^a   Vulliamy, Tom ^a   Marrone, Anna ^a   Beswick, Richard ^a   Kirwan, Michael ^a   Masunari, Yuka ^a   Al Qurashi, Fat Hia ^b   Aljurf, Mahmoud ^b   Dokal, Inderjeet ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; DYSKERIN; PROTEIN NOP10; SMALL INTERFERING RNA; TELOMERASE ASSOCIATED PROTEIN; TELOMERASE REVERSE TRANSCRIPTASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DYSKERATOSIS CONGENITA; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC TRANSCRIPTION; HELA CELL; HOMOZYGOSITY; HUMAN; MALE; PATHOGENESIS; PRIORITY JOURNAL; RNA INTERFERENCE; TELOMERE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CONSANGUINITY; DYSKERATOSIS CONGENITA; GENETIC MARKERS; HELA CELLS; HOMOZYGOTE; HUMANS; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RIBONUCLEOPROTEINS, SMALL NUCLEOLAR; RNA, SMALL INTERFERING; TELOMERASE; TELOMERE;

EID: 34447307404     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm111     Document Type: Article

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