دورية أكاديمية
أعرض في EDS

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.

التفاصيل البيبلوغرافية
العنوان: 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.
المؤلفون: Drelichman GI; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Fernández Escobar N; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Soberon BC; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Basack NF; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Frabasil J; Laboratorio de Neuroquímica 'Dr. N. A. Chamoles', Ciudad Autónoma de Buenos Aires, Argentina., Schenone AB; Laboratorio de Neuroquímica 'Dr. N. A. Chamoles', Ciudad Autónoma de Buenos Aires, Argentina., Aguilar G; Centro de Diagnóstico Dr. Rossi, Ciudad Autónoma de Buenos Aires, Argentina., Larroudé MS; Centro de Diagnóstico Dr. Rossi, Ciudad Autónoma de Buenos Aires, Argentina., Knight JR; Yale University Center for Genome Analysis, Yale School of Medicine, New Haven, CT, United States., Zhao D; Yale University Center for Genome Analysis, Yale School of Medicine, New Haven, CT, United States., Ruan J; Department of Internal Medicine, Yale School of Medicine, New Haven, CT. United States., Mistry PK; Department of Internal Medicine, Yale School of Medicine, New Haven, CT. United States.
مؤلفون مشاركون: Argentine Group for Diagnosis and Treatment of Gaucher Disease
المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Nov 11; Vol. 29, pp. 100820. Date of Electronic Publication: 2021 Nov 11 (Print Publication: 2021).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [New York, NY] : Elsevier Inc., [2014]-
مستخلص: 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 disease manifestations presenting in childhood with large burden of irreversible skeletal disease. Here using Long-Read Single Molecule Real-Time (SMRT) Sequencing of GBA1 locus, we show that Rec Nci I allele is highly prevalent and associates with severe skeletal manifestations in childhood.
(© 2021 Published by Elsevier Inc.)
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معلومات مُعتمدة: UL1 TR001863 United States TR NCATS NIH HHS
فهرسة مساهمة: Keywords: BD, bone disease; Bone disease; ERT, Enzyme replacement therapy; GADTEG, The Argentine Group for Diagnosis and Treatment of Gaucher Disease (Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher; GD, Gaucher disease; GL1, Glucosylceramide; Gaucher disease; Genotype phenotype correlation; Mutation analysis
تواريخ الأحداث: Date Created: 20211125 Latest Revision: 20220327
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC8600149
DOI: 10.1016/j.ymgmr.2021.100820
PMID: 34820281
قاعدة البيانات: MEDLINE
الوصف
تدمد:2214-4269
DOI:10.1016/j.ymgmr.2021.100820