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Inderjeet Dokal
Researcher at Queen Mary University of London
Publications - 165
Citations - 14303
Inderjeet Dokal is an academic researcher from Queen Mary University of London. The author has contributed to research in topics: Dyskeratosis congenita & Telomerase. The author has an hindex of 58, co-authored 156 publications receiving 13036 citations. Previous affiliations of Inderjeet Dokal include Hammersmith Hospital & St Mary's Hospital.
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Journal ArticleDOI
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Tom Vulliamy,Anna Marrone,Frederick D. Goldman,Andrew Dearlove,Monica Bessler,Philip J. Mason,Inderjeet Dokal +6 more
TL;DR: The gene responsible for dyskeratosis congenita is mapped in a large pedigree with autosomal dominant inheritance and affected members of this family have an 821-base-pair deletion on chromosome 3q that removes the 3′ 74 bases of hTR.
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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
Nina S. Heiss,Stuart W. Knight,Tom Vulliamy,Sabine M. Klauck,Stefan Wiemann,Philip J. Mason,Annemarie Poustka,Inderjeet Dokal +7 more
TL;DR: Five different missense mutations in five unrelated patients were subsequently identified in XAP101, indicating that it is the gene responsible for X-linked DKC (DKC1), which is the orthologue of rat NAP57 and Saccharomyces cerevisiae CBF5.
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Dyskeratosis congenita in all its forms.
TL;DR: The dyskeratosis congenita registry (DCR) has identified new features of DC and has been pivotal in the identification of the DKC1 gene which is mutated in X-linked DC.
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Guidelines for the diagnosis and management of aplastic anaemia
Judith C. W. Marsh,Sarah E. Ball,Jamie Cavenagh,Phil Darbyshire,Inderjeet Dokal,Edward C. Gordon-Smith,Jane Keidan,Andrew Laurie,Anna Martin,Jane Mercieca,Sally Killick,Rhona Stewart,John A. Liu Yin +12 more
TL;DR: Information is provided on how to identify and treat the signs and symptoms of central nervous system disease in children and young people with learning difficulties.
Journal ArticleDOI
Guidelines for the diagnosis and management of adult aplastic anaemia.
Sally Killick,Nick Bown,Jamie Cavenagh,Inderjeet Dokal,Theodora Foukaneli,Anita J. Hill,Peter Hillmen,Robin M. Ireland,Austin G. Kulasekararaj,Ghulam J. Mufti,John A. Snowden,Sujith Samarasinghe,Anna Wood,Judith C. W. Marsh +13 more
TL;DR: The authors thank Sally B. Killick, Nick Bown, Jamie Cavenagh, Inderjeet Dokal, Theodora Foukaneli, Peter Hillmen, Robin Ireland, Austin Kulasekararaj, Ghulam Mufti, John A Snowden, Sujith Samarasinghe and Anna Wood for their help.