(Q44220335)

English

A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome

scientific article published in December 2002

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

severe combined immunodeficiency

1 reference

based on heuristic

inferred from title

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author name string

Fausto Cossu

1

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Tom J Vulliamy

2

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Anna Marrone

3

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Manuela Badiali

4

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Antonio Cao

5

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Inderjeet Dokal

6

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Europe PubMed Central

PubMed publication ID

1 December 2017

language of work or name

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publication date

1 December 2002

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Europe PubMed Central

PubMed publication ID

1 December 2017

British Journal of Haematology

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Europe PubMed Central

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1 December 2017

119

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Europe PubMed Central

PubMed publication ID

1 December 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

765-768

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

Mammalian telomeres and telomerase

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03822.X

21 January 2018

Dyskeratosis congenita in all its forms

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03822.X

21 January 2018

Impaired germinal center reaction in mice with short telomeres.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03822.X

21 January 2018

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03822.X

21 January 2018

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03822.X

21 January 2018

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03822.X

21 January 2018

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03822.X

21 January 2018

Identifiers

10.1046/J.1365-2141.2002.03822.X

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

ResearchGate publication ID

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