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Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome
Warburg micro syndrome is an autosomal recessive disease where patients present with optic, neurologic and genital symptoms. Until now, four disease genes for Warburg micro syndrome, RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20, have been identified. Here, we report two novel homozygous RAB3GAP1 mutations...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785564/ https://www.ncbi.nlm.nih.gov/pubmed/27081543 http://dx.doi.org/10.1038/hgv.2015.34 |
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| author | Imagawa, Eri Fukai, Ryoko Behnam, Mahdiyeh Goyal, Manisha Nouri, Narges Nakashima, Mitsuko Tsurusaki, Yoshinori Saitsu, Hirotomo Salehi, Mansour Kapoor, Seema Tanaka, Fumiaki Miyake, Noriko Matsumoto, Naomichi |
| author_facet | Imagawa, Eri Fukai, Ryoko Behnam, Mahdiyeh Goyal, Manisha Nouri, Narges Nakashima, Mitsuko Tsurusaki, Yoshinori Saitsu, Hirotomo Salehi, Mansour Kapoor, Seema Tanaka, Fumiaki Miyake, Noriko Matsumoto, Naomichi |
| author_sort | Imagawa, Eri |
| collection | PubMed |
| description | Warburg micro syndrome is an autosomal recessive disease where patients present with optic, neurologic and genital symptoms. Until now, four disease genes for Warburg micro syndrome, RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20, have been identified. Here, we report two novel homozygous RAB3GAP1 mutations (c.22G>T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing. |
| format | Online Article Text |
| id | pubmed-4785564 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-47855642016-04-14 Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome Imagawa, Eri Fukai, Ryoko Behnam, Mahdiyeh Goyal, Manisha Nouri, Narges Nakashima, Mitsuko Tsurusaki, Yoshinori Saitsu, Hirotomo Salehi, Mansour Kapoor, Seema Tanaka, Fumiaki Miyake, Noriko Matsumoto, Naomichi Hum Genome Var Data Report Warburg micro syndrome is an autosomal recessive disease where patients present with optic, neurologic and genital symptoms. Until now, four disease genes for Warburg micro syndrome, RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20, have been identified. Here, we report two novel homozygous RAB3GAP1 mutations (c.22G>T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing. Nature Publishing Group 2015-09-17 /pmc/articles/PMC4785564/ /pubmed/27081543 http://dx.doi.org/10.1038/hgv.2015.34 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| spellingShingle | Data Report Imagawa, Eri Fukai, Ryoko Behnam, Mahdiyeh Goyal, Manisha Nouri, Narges Nakashima, Mitsuko Tsurusaki, Yoshinori Saitsu, Hirotomo Salehi, Mansour Kapoor, Seema Tanaka, Fumiaki Miyake, Noriko Matsumoto, Naomichi Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome |
| title | Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome |
| title_full | Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome |
| title_fullStr | Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome |
| title_full_unstemmed | Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome |
| title_short | Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome |
| title_sort | two novel homozygous rab3gap1 mutations cause warburg micro syndrome |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785564/ https://www.ncbi.nlm.nih.gov/pubmed/27081543 http://dx.doi.org/10.1038/hgv.2015.34 |
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