Cargando…
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128302/ https://www.ncbi.nlm.nih.gov/pubmed/30193137 http://dx.doi.org/10.1016/j.ajhg.2018.08.012 |
| _version_ | 1783353623610130432 |
|---|---|
| author | Martin, Carol-Anne Sarlós, Kata Logan, Clare V. Thakur, Roshan Singh Parry, David A. Bizard, Anna H. Leitch, Andrea Cleal, Louise Ali, Nadia Shaukat Al-Owain, Mohammed A. Allen, William Altmüller, Janine Aza-Carmona, Miriam Barakat, Bushra A.Y. Barraza-García, Jimena Begtrup, Amber Bogliolo, Massimo Cho, Megan T. Cruz-Rojo, Jaime Dhahrabi, Hassan Ali Mundi Elcioglu, Nursel H. Gorman, Gráinne S. Jobling, Rebekah Kesterton, Ian Kishita, Yoshihito Kohda, Masakazu Le Quesne Stabej, Polona Malallah, Asam Jassim Nürnberg, Peter Ohtake, Akira Okazaki, Yasushi Pujol, Roser Ramirez, Maria José Revah-Politi, Anya Shimura, Masaru Stevens, Paul Taylor, Robert W. Turner, Lesley Williams, Hywel Wilson, Carolyn Yigit, Gökhan Zahavich, Laura Alkuraya, Fowzan S. Surralles, Jordi Iglesias, Alejandro Murayama, Kei Wollnik, Bernd Dattani, Mehul Heath, Karen E. Hickson, Ian D. Jackson, Andrew P. |
| author_facet | Martin, Carol-Anne Sarlós, Kata Logan, Clare V. Thakur, Roshan Singh Parry, David A. Bizard, Anna H. Leitch, Andrea Cleal, Louise Ali, Nadia Shaukat Al-Owain, Mohammed A. Allen, William Altmüller, Janine Aza-Carmona, Miriam Barakat, Bushra A.Y. Barraza-García, Jimena Begtrup, Amber Bogliolo, Massimo Cho, Megan T. Cruz-Rojo, Jaime Dhahrabi, Hassan Ali Mundi Elcioglu, Nursel H. Gorman, Gráinne S. Jobling, Rebekah Kesterton, Ian Kishita, Yoshihito Kohda, Masakazu Le Quesne Stabej, Polona Malallah, Asam Jassim Nürnberg, Peter Ohtake, Akira Okazaki, Yasushi Pujol, Roser Ramirez, Maria José Revah-Politi, Anya Shimura, Masaru Stevens, Paul Taylor, Robert W. Turner, Lesley Williams, Hywel Wilson, Carolyn Yigit, Gökhan Zahavich, Laura Alkuraya, Fowzan S. Surralles, Jordi Iglesias, Alejandro Murayama, Kei Wollnik, Bernd Dattani, Mehul Heath, Karen E. Hickson, Ian D. Jackson, Andrew P. |
| author_sort | Martin, Carol-Anne |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-6128302 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-61283022018-09-11 Mutations in TOP3A Cause a Bloom Syndrome-like Disorder Martin, Carol-Anne Sarlós, Kata Logan, Clare V. Thakur, Roshan Singh Parry, David A. Bizard, Anna H. Leitch, Andrea Cleal, Louise Ali, Nadia Shaukat Al-Owain, Mohammed A. Allen, William Altmüller, Janine Aza-Carmona, Miriam Barakat, Bushra A.Y. Barraza-García, Jimena Begtrup, Amber Bogliolo, Massimo Cho, Megan T. Cruz-Rojo, Jaime Dhahrabi, Hassan Ali Mundi Elcioglu, Nursel H. Gorman, Gráinne S. Jobling, Rebekah Kesterton, Ian Kishita, Yoshihito Kohda, Masakazu Le Quesne Stabej, Polona Malallah, Asam Jassim Nürnberg, Peter Ohtake, Akira Okazaki, Yasushi Pujol, Roser Ramirez, Maria José Revah-Politi, Anya Shimura, Masaru Stevens, Paul Taylor, Robert W. Turner, Lesley Williams, Hywel Wilson, Carolyn Yigit, Gökhan Zahavich, Laura Alkuraya, Fowzan S. Surralles, Jordi Iglesias, Alejandro Murayama, Kei Wollnik, Bernd Dattani, Mehul Heath, Karen E. Hickson, Ian D. Jackson, Andrew P. Am J Hum Genet Correction Elsevier 2018-09-06 2018-09-06 /pmc/articles/PMC6128302/ /pubmed/30193137 http://dx.doi.org/10.1016/j.ajhg.2018.08.012 Text en © 2018 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Correction Martin, Carol-Anne Sarlós, Kata Logan, Clare V. Thakur, Roshan Singh Parry, David A. Bizard, Anna H. Leitch, Andrea Cleal, Louise Ali, Nadia Shaukat Al-Owain, Mohammed A. Allen, William Altmüller, Janine Aza-Carmona, Miriam Barakat, Bushra A.Y. Barraza-García, Jimena Begtrup, Amber Bogliolo, Massimo Cho, Megan T. Cruz-Rojo, Jaime Dhahrabi, Hassan Ali Mundi Elcioglu, Nursel H. Gorman, Gráinne S. Jobling, Rebekah Kesterton, Ian Kishita, Yoshihito Kohda, Masakazu Le Quesne Stabej, Polona Malallah, Asam Jassim Nürnberg, Peter Ohtake, Akira Okazaki, Yasushi Pujol, Roser Ramirez, Maria José Revah-Politi, Anya Shimura, Masaru Stevens, Paul Taylor, Robert W. Turner, Lesley Williams, Hywel Wilson, Carolyn Yigit, Gökhan Zahavich, Laura Alkuraya, Fowzan S. Surralles, Jordi Iglesias, Alejandro Murayama, Kei Wollnik, Bernd Dattani, Mehul Heath, Karen E. Hickson, Ian D. Jackson, Andrew P. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder |
| title | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder |
| title_full | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder |
| title_fullStr | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder |
| title_full_unstemmed | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder |
| title_short | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder |
| title_sort | mutations in top3a cause a bloom syndrome-like disorder |
| topic | Correction |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128302/ https://www.ncbi.nlm.nih.gov/pubmed/30193137 http://dx.doi.org/10.1016/j.ajhg.2018.08.012 |
| work_keys_str_mv | AT martincarolanne mutationsintop3acauseabloomsyndromelikedisorder AT sarloskata mutationsintop3acauseabloomsyndromelikedisorder AT loganclarev mutationsintop3acauseabloomsyndromelikedisorder AT thakurroshansingh mutationsintop3acauseabloomsyndromelikedisorder AT parrydavida mutationsintop3acauseabloomsyndromelikedisorder AT bizardannah mutationsintop3acauseabloomsyndromelikedisorder AT leitchandrea mutationsintop3acauseabloomsyndromelikedisorder AT cleallouise mutationsintop3acauseabloomsyndromelikedisorder AT alinadiashaukat mutationsintop3acauseabloomsyndromelikedisorder AT alowainmohammeda mutationsintop3acauseabloomsyndromelikedisorder AT allenwilliam mutationsintop3acauseabloomsyndromelikedisorder AT altmullerjanine mutationsintop3acauseabloomsyndromelikedisorder AT azacarmonamiriam mutationsintop3acauseabloomsyndromelikedisorder AT barakatbushraay mutationsintop3acauseabloomsyndromelikedisorder AT barrazagarciajimena mutationsintop3acauseabloomsyndromelikedisorder AT begtrupamber mutationsintop3acauseabloomsyndromelikedisorder AT bogliolomassimo mutationsintop3acauseabloomsyndromelikedisorder AT chomegant mutationsintop3acauseabloomsyndromelikedisorder AT cruzrojojaime mutationsintop3acauseabloomsyndromelikedisorder AT dhahrabihassanalimundi mutationsintop3acauseabloomsyndromelikedisorder AT elcioglunurselh mutationsintop3acauseabloomsyndromelikedisorder AT mutationsintop3acauseabloomsyndromelikedisorder AT gormangrainnes mutationsintop3acauseabloomsyndromelikedisorder AT joblingrebekah mutationsintop3acauseabloomsyndromelikedisorder AT kestertonian mutationsintop3acauseabloomsyndromelikedisorder AT kishitayoshihito mutationsintop3acauseabloomsyndromelikedisorder AT kohdamasakazu mutationsintop3acauseabloomsyndromelikedisorder AT lequesnestabejpolona mutationsintop3acauseabloomsyndromelikedisorder AT malallahasamjassim mutationsintop3acauseabloomsyndromelikedisorder AT nurnbergpeter mutationsintop3acauseabloomsyndromelikedisorder AT ohtakeakira mutationsintop3acauseabloomsyndromelikedisorder AT okazakiyasushi mutationsintop3acauseabloomsyndromelikedisorder AT pujolroser mutationsintop3acauseabloomsyndromelikedisorder AT ramirezmariajose mutationsintop3acauseabloomsyndromelikedisorder AT revahpolitianya mutationsintop3acauseabloomsyndromelikedisorder AT shimuramasaru mutationsintop3acauseabloomsyndromelikedisorder AT stevenspaul mutationsintop3acauseabloomsyndromelikedisorder AT taylorrobertw mutationsintop3acauseabloomsyndromelikedisorder AT turnerlesley mutationsintop3acauseabloomsyndromelikedisorder AT williamshywel mutationsintop3acauseabloomsyndromelikedisorder AT wilsoncarolyn mutationsintop3acauseabloomsyndromelikedisorder AT yigitgokhan mutationsintop3acauseabloomsyndromelikedisorder AT zahavichlaura mutationsintop3acauseabloomsyndromelikedisorder AT alkurayafowzans mutationsintop3acauseabloomsyndromelikedisorder AT surrallesjordi mutationsintop3acauseabloomsyndromelikedisorder AT iglesiasalejandro mutationsintop3acauseabloomsyndromelikedisorder AT murayamakei mutationsintop3acauseabloomsyndromelikedisorder AT wollnikbernd mutationsintop3acauseabloomsyndromelikedisorder AT dattanimehul mutationsintop3acauseabloomsyndromelikedisorder AT heathkarene mutationsintop3acauseabloomsyndromelikedisorder AT hicksoniand mutationsintop3acauseabloomsyndromelikedisorder AT jacksonandrewp mutationsintop3acauseabloomsyndromelikedisorder |