Cargando…
Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10438398/ https://www.ncbi.nlm.nih.gov/pubmed/37282399 http://dx.doi.org/10.4103/ijmr.IJMR_3568_20 |
| _version_ | 1785092781730955264 |
|---|---|
| author | Bhattacherjee, Amrita Desa, Elyska Lone, Kaisar Ahmad Jaiswal, Arjita Tyagi, Shweta Dalal, Ashwin |
| author_facet | Bhattacherjee, Amrita Desa, Elyska Lone, Kaisar Ahmad Jaiswal, Arjita Tyagi, Shweta Dalal, Ashwin |
| author_sort | Bhattacherjee, Amrita |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-10438398 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | Wolters Kluwer - Medknow |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-104383982023-08-19 Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis Bhattacherjee, Amrita Desa, Elyska Lone, Kaisar Ahmad Jaiswal, Arjita Tyagi, Shweta Dalal, Ashwin Indian J Med Res Practice: Correspondence Wolters Kluwer - Medknow 2023-04 2023-05-31 /pmc/articles/PMC10438398/ /pubmed/37282399 http://dx.doi.org/10.4103/ijmr.IJMR_3568_20 Text en Copyright: © 2023 Indian Journal of Medical Research https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
| spellingShingle | Practice: Correspondence Bhattacherjee, Amrita Desa, Elyska Lone, Kaisar Ahmad Jaiswal, Arjita Tyagi, Shweta Dalal, Ashwin Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis |
| title | Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis |
| title_full | Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis |
| title_fullStr | Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis |
| title_full_unstemmed | Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis |
| title_short | Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis |
| title_sort | genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis |
| topic | Practice: Correspondence |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10438398/ https://www.ncbi.nlm.nih.gov/pubmed/37282399 http://dx.doi.org/10.4103/ijmr.IJMR_3568_20 |
| work_keys_str_mv | AT bhattacherjeeamrita genotypefirstapproachfamilialsegregationanalysishelpintheelucidationofdiseasecausingvariantforfucosidosis AT desaelyska genotypefirstapproachfamilialsegregationanalysishelpintheelucidationofdiseasecausingvariantforfucosidosis AT lonekaisarahmad genotypefirstapproachfamilialsegregationanalysishelpintheelucidationofdiseasecausingvariantforfucosidosis AT jaiswalarjita genotypefirstapproachfamilialsegregationanalysishelpintheelucidationofdiseasecausingvariantforfucosidosis AT tyagishweta genotypefirstapproachfamilialsegregationanalysishelpintheelucidationofdiseasecausingvariantforfucosidosis AT dalalashwin genotypefirstapproachfamilialsegregationanalysishelpintheelucidationofdiseasecausingvariantforfucosidosis |