PMC Links for Nucleotide (Select 1768406744) - PMC

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Items: 4

Select item 60649971.

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants

Hemanth Tummala, Arran D. Dokal, Amanda Walne, Alicia Ellison, Shirleny Cardoso, Saranha Amirthasigamanipillai, Michael Kirwan, Isobel Browne, Jasmin K. Sidhu, Vinothini Rajeeve, Ana Rio-Machin, Ahad Al Seraihi, Andrew S. Duncombe, Matthew Jenner, Owen P. Smith, Helen Enright, Alice Norton, Tekin Aksu, Namık Yaşar Özbek, Nikolas Pontikos, Pedro Cutillas, Inderjeet Dokal, Tom Vulliamy

Proc Natl Acad Sci U S A. 2018 Jul 24; 115(30): 7777–7782. Published online 2018 Jul 9. doi: 10.1073/pnas.1803275115

PMCID:: PMC6064997

Abstract Article PDF–1.2M

Select item 60144542.

ERCC6L2‐associated inherited bone marrow failure syndrome

Iren Shabanova, Elisa Cohen, Michaela Cada, Ajoy Vincent, Ronald D. Cohn, Yigal Dror

Mol Genet Genomic Med. 2018 May; 6(3): 463–468. Published online 2018 Apr 6. doi: 10.1002/mgg3.388

PMCID:: PMC6014454

Abstract Article PDF–458K

Select item 48863573.

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly

Shu Zhang, Corinne Pondarre, Gaelle Pennarun, Helene Labussiere-Wallet, Gabriella Vera, Benoit France, Marie Chansel, Isabelle Rouvet, Patrick Revy, Bernard Lopez, Jean Soulier, Pascale Bertrand, Isabelle Callebaut, Jean-Pierre de Villartay

J Exp Med. 2016 May 30; 213(6): 1011–1028. doi: 10.1084/jem.20151183