(Q79313549)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

main subject

dyskeratosis congenita

1 reference

Patrick F Fogarty

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Hiroki Yamaguchi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Adrian Wiestner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Gabriela M Baerlocher

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Elaine Sloand

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Weihua S Zeng

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Elizabeth J Read

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Peter M Lansdorp

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Neal S Young

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

language of work or name

English

0 references

publication date

1 November 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

volume

362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

issue

9396

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

page(s)

1628-1630

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14630445%20AND%20SRC:MED&resulttype=core&format=json

Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome

21 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914797-6

7 January 2021

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914797-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914797-6

7 January 2021

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914797-6

7 January 2021

Telomere length in leukocyte subpopulations of patients with aplastic anemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914797-6

7 January 2021