| http://purl.uniprot.org/citations/31402777 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31402777 | http://www.w3.org/2000/01/rdf-schema#comment | "Objective: Juvenile nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney. It represents the most frequent genetic cause of chronic renal failure in children. Methods: we investigated clinical and molecular features in two children with Juvenile nephronophthisis using firstly Multiplex ligation-dependent probe amplification (MLPA) and secondly multiplex PCR. Results: we report a homozygous NPHP1 deletion in two children. Conclusion: NPHP1 deletion analysis using diagnostic methods (e.g. MLPA, Multiplex PCR) should always be considered in patients with nephronophthisis, especially from consanguineous families. Our results provide insights into genotype-phenotype correlations in juvenile nephronophthisis that can be utilized in genetic counseling."xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.org/dc/terms/identifier | "doi:10.1080/17843286.2019.1655231"xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/author | "Kamoun H."xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/author | "Hachicha M."xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/author | "Hilbert P."xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/author | "Belguith N."xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/author | "Benoit V."xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/author | "Abdelwahed M."xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/author | "Keskes-Ammar L."xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/author | "Maaloul I."xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/name | "Acta Clin Belg"xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/pages | "16-24"xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/title | "Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis."xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://purl.uniprot.org/core/volume | "76"xsd:string |
| http://purl.uniprot.org/citations/31402777 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31402777 |
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