Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is due to variation in the COL7A1 gene. The clinical phenotype and severity depends on the type of variation and domain of the affected protein. OBJECTIVES: To characterize the spectrum of COL7A1 variations in a cohort of DEB patients from India, to...

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Detalles Bibliográficos
Autores principales: Gupta, Divya, Jayashankar, Charitha, Srinivas, Manoj, Baraka Vishwanathan, Gurudatta, Reddy, Kristipati Raghavendra, Kubba, Asha, Batrani, Meenakshi, Hiremagalore, Ravi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411825/
https://www.ncbi.nlm.nih.gov/pubmed/37556444
http://dx.doi.org/10.1371/journal.pone.0289558

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411825/
https://www.ncbi.nlm.nih.gov/pubmed/37556444
http://dx.doi.org/10.1371/journal.pone.0289558

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