Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

Detalles Bibliográficos
Autores principales: Schmaltz-Panneau, Barbara, Pagnier, Anne, Clauin, Séverine, Buratti, Julien, Marty, Caroline, Fenneteau, Odile, Dieterich, Klaus, Beaupain, Blandine, Donadieu, Jean, Plo, Isabelle, Bellanné-Chantelot, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8018125/
https://www.ncbi.nlm.nih.gov/pubmed/32273475
http://dx.doi.org/10.3324/haematol.2020.247825
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author Schmaltz-Panneau, Barbara
Pagnier, Anne
Clauin, Séverine
Buratti, Julien
Marty, Caroline
Fenneteau, Odile
Dieterich, Klaus
Beaupain, Blandine
Donadieu, Jean
Plo, Isabelle
Bellanné-Chantelot, Christine
author_facet Schmaltz-Panneau, Barbara
Pagnier, Anne
Clauin, Séverine
Buratti, Julien
Marty, Caroline
Fenneteau, Odile
Dieterich, Klaus
Beaupain, Blandine
Donadieu, Jean
Plo, Isabelle
Bellanné-Chantelot, Christine
author_sort Schmaltz-Panneau, Barbara
collection PubMed
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spelling pubmed-80181252021-04-05 Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia Schmaltz-Panneau, Barbara Pagnier, Anne Clauin, Séverine Buratti, Julien Marty, Caroline Fenneteau, Odile Dieterich, Klaus Beaupain, Blandine Donadieu, Jean Plo, Isabelle Bellanné-Chantelot, Christine Haematologica Case Reports Fondazione Ferrata Storti 2021-04-01 /pmc/articles/PMC8018125/ /pubmed/32273475 http://dx.doi.org/10.3324/haematol.2020.247825 Text en Copyright© 2021 Ferrata Storti Foundation http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Case Reports
Schmaltz-Panneau, Barbara
Pagnier, Anne
Clauin, Séverine
Buratti, Julien
Marty, Caroline
Fenneteau, Odile
Dieterich, Klaus
Beaupain, Blandine
Donadieu, Jean
Plo, Isabelle
Bellanné-Chantelot, Christine
Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia
title Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia
title_full Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia
title_fullStr Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia
title_full_unstemmed Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia
title_short Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia
title_sort identification of biallelic germline variants of srp68 in a sporadic case with severe congenital neutropenia
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8018125/
https://www.ncbi.nlm.nih.gov/pubmed/32273475
http://dx.doi.org/10.3324/haematol.2020.247825
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