Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2024-07-01
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| Series: | Advances in Psychiatry and Neurology |
| Subjects: | |
| Online Access: | https://www.termedia.pl/Co-occurrence-of-CAPN3-homozygous-mutation-and-CCTG-expansion-r-nin-the-CNBP-gene-in-a-patient-r-nwith-muscular-dystrophy,116,54456,1,1.html |
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| author | Wiktoria Radziwonik-Frączyk Ewelina Elert-Dobkowska Jolanta Kubalska Iwona Stępniak Marta Lipowska Anna Potulska-Chromik Anna Sułek |
| author_facet | Wiktoria Radziwonik-Frączyk Ewelina Elert-Dobkowska Jolanta Kubalska Iwona Stępniak Marta Lipowska Anna Potulska-Chromik Anna Sułek |
| author_sort | Wiktoria Radziwonik-Frączyk |
| collection | DOAJ |
| format | Article |
| id | doaj-art-6ff5b30166654b7fa8ea968937a902fe |
| institution | Kabale University |
| issn | 1230-2813 2720-5371 |
| language | English |
| publishDate | 2024-07-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Advances in Psychiatry and Neurology |
| spelling | doaj-art-6ff5b30166654b7fa8ea968937a902fe2025-01-27T10:27:25ZengTermedia Publishing HouseAdvances in Psychiatry and Neurology1230-28132720-53712024-07-0133210911410.5114/ppn.2024.14138254456Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophyWiktoria Radziwonik-FrączykEwelina Elert-DobkowskaJolanta KubalskaIwona StępniakMarta LipowskaAnna Potulska-ChromikAnna Sułekhttps://www.termedia.pl/Co-occurrence-of-CAPN3-homozygous-mutation-and-CCTG-expansion-r-nin-the-CNBP-gene-in-a-patient-r-nwith-muscular-dystrophy,116,54456,1,1.htmlcapn3 next-generation sequencing myotonic dystrophy muscular dystrophies cnbp. |
| spellingShingle | Wiktoria Radziwonik-Frączyk Ewelina Elert-Dobkowska Jolanta Kubalska Iwona Stępniak Marta Lipowska Anna Potulska-Chromik Anna Sułek Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy Advances in Psychiatry and Neurology capn3 next-generation sequencing myotonic dystrophy muscular dystrophies cnbp. |
| title | Co-occurrence of CAPN3 homozygous mutation and CCTG expansion
in the CNBP gene in a patient
with muscular dystrophy |
| title_full | Co-occurrence of CAPN3 homozygous mutation and CCTG expansion
in the CNBP gene in a patient
with muscular dystrophy |
| title_fullStr | Co-occurrence of CAPN3 homozygous mutation and CCTG expansion
in the CNBP gene in a patient
with muscular dystrophy |
| title_full_unstemmed | Co-occurrence of CAPN3 homozygous mutation and CCTG expansion
in the CNBP gene in a patient
with muscular dystrophy |
| title_short | Co-occurrence of CAPN3 homozygous mutation and CCTG expansion
in the CNBP gene in a patient
with muscular dystrophy |
| title_sort | co occurrence of capn3 homozygous mutation and cctg expansion in the cnbp gene in a patient with muscular dystrophy |
| topic | capn3 next-generation sequencing myotonic dystrophy muscular dystrophies cnbp. |
| url | https://www.termedia.pl/Co-occurrence-of-CAPN3-homozygous-mutation-and-CCTG-expansion-r-nin-the-CNBP-gene-in-a-patient-r-nwith-muscular-dystrophy,116,54456,1,1.html |
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