Bone Marrow Failure and Developmental Delay Caused By Mutations in Poly(A)-Specific Ribonuclease
Dhanraj, Santhosh, Rao Gunja, Sethu Madhava, Deveau, Adam P, Nissbeck, Mikael, Boonyawat, Boonchai, Coombs, Andrew J, Renieri, Alessandra, Mucciolo, Mafalda, Marozza, Annabella, Buoni, Sabrina, Turner, Lesley, Li, Hongbing, Jarrar, Ameer, Sabanayagam, Mathura, Kirby, Melanie, Shago, Mary, Pinto, Dalila, Berman, Jason N., Scherer, Stephen W., Virtanen, Anders, Dror, Yigal
Published in Blood (03.12.2015)
Published in Blood (03.12.2015)
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Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
Dhanraj, Santhosh, Gunja, Sethu Madhava Rao, Deveau, Adam P, Nissbeck, Mikael, Boonyawat, Boonchai, Coombs, Andrew J, Renieri, Alessandra, Mucciolo, Mafalda, Marozza, Annabella, Buoni, Sabrina, Turner, Lesley, Li, Hongbing, Jarrar, Ameer, Sabanayagam, Mathura, Kirby, Melanie, Shago, Mary, Pinto, Dalila, Berman, Jason N, Scherer, Stephen W, Virtanen, Anders, Dror, Yigal
Published in Journal of medical genetics (01.11.2015)
Published in Journal of medical genetics (01.11.2015)
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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants
Dodson, Lois M., Baldan, Alessandro, Nissbeck, Mikael, Gunja, Sethu M. R., Bonnen, Penelope E., Aubert, Geraldine, Birchansky, Sherri, Virtanen, Anders, Bertuch, Alison A.
Published in Human mutation (01.12.2019)
Published in Human mutation (01.12.2019)
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