DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome

Detalles Bibliográficos
Autores principales: Boufleur, Karine, Scrideli, Carlos Alberto, Valera, Elvis, Tone, Luiz, Vulliamy, Tom, Arruda, L Karla, Roxo Jr, Persio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: World Allergy Organization 2015
Materias:
Meeting Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407155/
http://dx.doi.org/10.1186/1939-4551-8-S1-A209
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author Boufleur, Karine
Scrideli, Carlos Alberto
Valera, Elvis
Tone, Luiz
Vulliamy, Tom
Arruda, L Karla
Roxo Jr, Persio
author_facet Boufleur, Karine
Scrideli, Carlos Alberto
Valera, Elvis
Tone, Luiz
Vulliamy, Tom
Arruda, L Karla
Roxo Jr, Persio
author_sort Boufleur, Karine
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spelling pubmed-44071552015-05-04 DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome Boufleur, Karine Scrideli, Carlos Alberto Valera, Elvis Tone, Luiz Vulliamy, Tom Arruda, L Karla Roxo Jr, Persio World Allergy Organ J Meeting Abstract World Allergy Organization 2015-04-08 /pmc/articles/PMC4407155/ http://dx.doi.org/10.1186/1939-4551-8-S1-A209 Text en Copyright © 2015 Boufleur et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Meeting Abstract
Boufleur, Karine
Scrideli, Carlos Alberto
Valera, Elvis
Tone, Luiz
Vulliamy, Tom
Arruda, L Karla
Roxo Jr, Persio
DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome
title DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome
title_full DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome
title_fullStr DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome
title_full_unstemmed DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome
title_short DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome
title_sort dkc1 mutation causing different phenotypes in a family with x-linked hoyeraal-hreidarsson syndrome
topic Meeting Abstract
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407155/
http://dx.doi.org/10.1186/1939-4551-8-S1-A209
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