Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

Lina Basel-Vanagaite; Inderjeet Dokal; Hannah Tamary; Abraham Avigdor; Ben Zion Garty; Alexander Volkov; Tom Vulliamy

doi:10.3324/haematol.12317

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

Lina Basel-Vanagaite^*, Inderjeet Dokal, Hannah Tamary, Abraham Avigdor, Ben Zion Garty, Alexander Volkov, Tom Vulliamy

^*Corresponding author for this work

Research output: Contribution to journal › Letter › peer-review

42 Scopus citations

Original language	English
Pages (from-to)	943-944
Number of pages	2
Journal	Haematologica
Volume	93
Issue number	6
DOIs	https://doi.org/10.3324/haematol.12317
State	Published - Jun 2008

Keywords

Anticipation
Cardiac fibrosis
Dyskeratosis congenita
TERT
Telomere shortening

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10.3324/haematol.12317

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title = "Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations",

keywords = "Anticipation, Cardiac fibrosis, Dyskeratosis congenita, TERT, Telomere shortening",

author = "Lina Basel-Vanagaite and Inderjeet Dokal and Hannah Tamary and Abraham Avigdor and Garty, \{Ben Zion\} and Alexander Volkov and Tom Vulliamy",

year = "2008",

month = jun,

doi = "10.3324/haematol.12317",

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volume = "93",

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AU - Basel-Vanagaite, Lina

AU - Dokal, Inderjeet

AU - Tamary, Hannah

AU - Avigdor, Abraham

AU - Garty, Ben Zion

AU - Volkov, Alexander

AU - Vulliamy, Tom

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Y1 - 2008/6

KW - Anticipation

KW - Cardiac fibrosis

KW - Dyskeratosis congenita

KW - TERT

KW - Telomere shortening

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C2 - 18460650

AN - SCOPUS:44949143804

SN - 0390-6078

VL - 93

SP - 943

EP - 944

JO - Haematologica

JF - Haematologica

IS - 6

ER -

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

Keywords

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