About: Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations

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About: Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

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type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
title	Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations
Creator	Berrino, Enrico Carella, Miriam Errichiello, Edoardo Mina, Tommaso Romagnoli, Maria Sacchini, Patrizia Venesio, Tiziana Vetro, Annalisa Wischmeijer, Anita Zecca, Marco Zuffardi, Orsetta
source	Elsevier; Medline; PMC
abstract	Abstract Diamond-Blackfan anemia (DBA) is a rare congenital disorder presenting remarkable phenotypic overlap with other inherited bone marrow failure syndromes, making differential diagnosis challenging and its confirmation often reached with great delay. By whole exome sequencing, we unraveled the presence of pathogenic variants affecting genes already known to be involved in DBA pathogenesis (RPL5 and RPS19) in three patients with otherwise uncertain clinical diagnosis, and provided new insights on DBA genotype-phenotype correlations. Remarkably, the RPL5 c.482del frameshift mutation has never been reported before, whereas the RPS19 c.3G>T missense mutation, although previously described in a 2-month-old DBA patient without malformations and refractory to steroid therapy, was detected here in the mosaic state in different bodily tissues for the first time in DBA patients.
has issue date	2017-05-31(xsd:dateTime)
bibo:doi	10.1016/j.bcmd.2017.03.002
bibo:pmid	28376382
has license	els-covid
sha1sum (hex)	ec19bc2eee7c2b376339367dd6e3f8bef099b3b8
schema:url	https://doi.org/10.1016/j.bcmd.2017.03.002
resource representing a document's title	Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations
has PubMed Central identifier	PMC7129236
has PubMed identifier	28376382
schema:publication	Blood Cells, Molecules, and Diseases
resource representing a document's body	covid:ec19bc2eee7c2b376339367dd6e3f8bef099b3b8#body_text
is schema:about of	named entity 'MOSAIC' named entity 'WHOLE EXOME SEQUENCING' named entity 'patients' named entity 'malformations' named entity 'DBA' named entity 'time' named entity 'patients' named entity 'mutations' named entity 'HERE' named entity 'STATE' named entity 'STEROID THERAPY' named entity 'PATHOGENIC' named entity 'PROVIDED' named entity 'PATIENT' named entity 'OLD' named entity 'DESCRIBED' named entity 'DELAY' named entity 'PRESENTING' named entity 'INVOLVED' named entity 'OVERLAP WITH' named entity 'RPS19' named entity 'BONE MARROW FAILURE SYNDROMES' named entity 'ITS' named entity 'DETECTED' named entity 'STUDY' named entity 'PATIENTS' named entity 'NEVER' named entity 'MOSAIC' named entity 'RPS19' named entity 'DIAMOND-BLACKFAN ANEMIA' named entity 'CLINICAL' named entity 'MUTATIONS' named entity 'RPL5' named entity 'PATIENTS' named entity 'RPL5' named entity 'NOVEL' named entity 'PATHOGENESIS' named entity 'MISSENSE MUTATION' named entity 'TIME' named entity 'PREVIOUSLY' named entity 'CONGENITAL DISORDER' named entity 'FRAMESHIFT MUTATION' named entity 'INHERITED' named entity 'KNOWN' named entity 'TISSUES' named entity 'INSIGHTS' named entity 'CLINICAL DIAGNOSIS' named entity 'DIAMOND-BLACKFAN ANEMIA' named entity 'RARE' named entity 'CORRELATIONS' named entity 'CONFIRMATION' named entity 'GENOTYPE-PHENOTYPE' named entity 'DIFFERENT' named entity 'PRESENCE OF' named entity 'GREAT' named entity 'WHOLE EXOME SEQUENCING' named entity 'UNCERTAIN' named entity 'VARIANTS' named entity 'DIFFERENTIAL DIAGNOSIS' named entity 'BODILY' named entity 'AFFECTING' named entity 'GENES' named entity 'DIFFERENTIAL DIAGNOSIS' named entity 'MONTH' named entity 'REFRACTORY' named entity 'IS A' named entity 'NEW' named entity 'MOLECULAR' named entity 'REPORTED' named entity 'DBA' named entity 'steroid'

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