Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease

Gaucher disease is renowned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG, delineated uniformly severe type 1 Gaucher disea...

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Detalles Bibliográficos
Autores principales: Drelichman, Guillermo I., Fernández Escobar, Nicolas, Soberon, Barbara C., Basack, Nora F., Frabasil, Joaquin, Schenone, Andrea B., Aguilar, Gabriel, Larroudé, Maria S., Knight, James R., Zhao, Dejian, Ruan, Jiapeng, Mistry, Pramod K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600149/
https://www.ncbi.nlm.nih.gov/pubmed/34820281
http://dx.doi.org/10.1016/j.ymgmr.2021.100820

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