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

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 reckoned 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, have delineated uniformly severe type 1 Gaucher...

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Autores principales: G. Drelichman, N. Fernández Escobar, B. Soberon, N. Basack, J. Frabasil, A. Schenone, G. Aguilar, M. Larroudé, J. Knight, D. Zhao, J. Ruan, P.K. Mistry
Formato: article
Lenguaje:EN
Publicado: Elsevier 2021
Materias:
Gaucher disease
Bone disease
Mutation analysis
Genotype phenotype correlation
Medicine (General)
R5-920
Biology (General)
QH301-705.5
Acceso en línea:https://doaj.org/article/98b4f2892f6c4590959c830cdc82cef0
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