| http://purl.uniprot.org/citations/26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26192461 | http://www.w3.org/2000/01/rdf-schema#comment | "Autosomal Recessive Primary Microcephaly (MCPH-MIM 251200) is distinguished by congenital decrease in occipito-frontal head circumference (OFC) of at least 2 standard deviations (SD) below population average in addition to non-progressive mental retardation, without any prominent neurological disorder. Mutations in MCPH1, which encodes the protein microcephalin have been detected in this disorder. Here we report a consanguineous Iranian family with 2 children affected with microcephaly. Despite the severe mental retardation observed in the male patient, the female patient had normal intelligent with no delay in motor milestones or speech. A novel splice-acceptor site homozygous mutation has been detected in intron 4 of MCPH1 gene (c.322-2A>T) which results in an RNA processing defect with a 15-nucleotide deletion in exon 5 of the mRNA transcript (r.322_336del15, p.R108_Q112del5). This novel mutation has resulted in different phenotypes in affected male and female patients of this family. The sex-specific variations in gene regulation during brain development may partially explain such difference in phenotypes probably in addition to other mechanisms such as modifier genes."xsd:string |
| http://purl.uniprot.org/citations/26192461 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.gene.2015.07.058"xsd:string |
| http://purl.uniprot.org/citations/26192461 | http://purl.uniprot.org/core/author | "Fardaei M."xsd:string |
| http://purl.uniprot.org/citations/26192461 | http://purl.uniprot.org/core/author | "Ghafouri-Fard S."xsd:string |
| http://purl.uniprot.org/citations/26192461 | http://purl.uniprot.org/core/author | "Miryounesi M."xsd:string |
| http://purl.uniprot.org/citations/26192461 | http://purl.uniprot.org/core/author | "Gholami M."xsd:string |
| http://purl.uniprot.org/citations/26192461 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26192461 | http://purl.uniprot.org/core/name | "Gene"xsd:string |
| http://purl.uniprot.org/citations/26192461 | http://purl.uniprot.org/core/pages | "149-150"xsd:string |
| http://purl.uniprot.org/citations/26192461 | http://purl.uniprot.org/core/title | "A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene."xsd:string |
| http://purl.uniprot.org/citations/26192461 | http://purl.uniprot.org/core/volume | "571"xsd:string |
| http://purl.uniprot.org/citations/26192461 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26192461 |
| http://purl.uniprot.org/citations/26192461 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26192461 |
| http://purl.uniprot.org/uniprot/#_A0A172QZW0-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |
| http://purl.uniprot.org/uniprot/#_A0A1B2M4G2-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |
| http://purl.uniprot.org/uniprot/#_H8ZSC4-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |
| http://purl.uniprot.org/uniprot/#_Q6W788-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |
| http://purl.uniprot.org/uniprot/#_Q6W791-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |
| http://purl.uniprot.org/uniprot/#_Q6W794-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |
| http://purl.uniprot.org/uniprot/#_Q6W795-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |
| http://purl.uniprot.org/uniprot/#_Q6W796-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |
| http://purl.uniprot.org/uniprot/#_Q6W799-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |
| http://purl.uniprot.org/uniprot/#_Q6W7A2-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |
| http://purl.uniprot.org/uniprot/#_Q6W7E0-mappedCitation-26192461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26192461 |