| http://purl.uniprot.org/citations/25714577 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25714577 | http://www.w3.org/2000/01/rdf-schema#comment | "Molecular genetics studies are of increasing importance in the diagnosis and classification of congenital diarrheal disorders. We describe the molecular genetic basis of tricho-hepato-enteric syndrome in patients from Saudi Arabia with novel mutations of SKIV2L (c.3559_3579del, p.1187_1193del) and TTC37 (C4102T, p.Q1368X). Interestingly, the congenital presence of café-au-lait spots and their distribution in the pelvis and lower limbs were a unique and consistent clinical feature of these patients and may aid differential diagnosis of congenital diarrheal disorders. This study expands allelic and phenotypic heterogeneity of syndromic diarrhea/tricho-hepato-enteric syndrome."xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.org/dc/terms/identifier | "doi:10.1097/mpg.0000000000000627"xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/author | "Abouelhoda M."xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/author | "Meyer B.F."xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/author | "Rahbeeni Z."xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/author | "Monies D.M."xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/author | "Al-Younes B."xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/author | "Naim E.A."xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/author | "Al-Mehaidib A."xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/name | "J Pediatr Gastroenterol Nutr"xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/pages | "352-356"xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/title | "Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome."xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://purl.uniprot.org/core/volume | "60"xsd:string |
| http://purl.uniprot.org/citations/25714577 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/25714577 |
| http://purl.uniprot.org/citations/25714577 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/25714577 |
| http://purl.uniprot.org/uniprot/#_A0A097PAY3-mappedCitation-25714577 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25714577 |
| http://purl.uniprot.org/uniprot/#_A0A1U9X8I7-mappedCitation-25714577 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25714577 |
| http://purl.uniprot.org/uniprot/#_A0A1U9X8I9-mappedCitation-25714577 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25714577 |
| http://purl.uniprot.org/uniprot/#_A0A1U9X8J0-mappedCitation-25714577 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25714577 |
| http://purl.uniprot.org/uniprot/#_A0A1U9X8J1-mappedCitation-25714577 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25714577 |
| http://purl.uniprot.org/uniprot/#_A0A1U9X8J2-mappedCitation-25714577 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25714577 |
| http://purl.uniprot.org/uniprot/#_A0A1U9X8J6-mappedCitation-25714577 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25714577 |
| http://purl.uniprot.org/uniprot/#_A0A8V8TLC0-mappedCitation-25714577 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25714577 |