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Items: 6

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1.

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.

Mroczek S, Krwawicz J, Kutner J, Lazniewski M, KuciƄski I, Ginalski K, Dziembowski A.

Genes Dev. 2012 Sep 1;26(17):1911-25. doi: 10.1101/gad.193169.112. Epub 2012 Aug 16.

2.

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I.

Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8073-8. doi: 10.1073/pnas.0800042105. Epub 2008 Jun 3.

3.

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I.

Blood. 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4.

4.
5.

Dyskeratosis congenita.

Marrone A, Mason PJ.

Cell Mol Life Sci. 2003 Mar;60(3):507-17. Review.

PMID:
12737310
6.

Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families.

Ning Y, Yongshan Y, Pai GS, Gross AJ.

Cancer Genet Cytogenet. 1992 May;60(1):31-4.

PMID:
1375530

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