reference/17391646

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/17391646

Outgoing Links

Predicate	Object
contentType	Journal Article\|Research Support, Non-U.S. Gov't
endingPage	444
issn	1098-1004 1059-7794
issueIdentifier	4
pageRange	437-444
publicationName	Human Mutation
startingPage	437
bibliographicCitation	Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS. The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. Hum. Mutat. 2010 Mar 26;31(4):437–44. doi: 10.1002/humu.21206.
creator	http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_ab1ab97410a02f649dd73848825aa14c http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_7b4e483c960e4d3d529c8fbef2bb3358 http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-5315-8325 http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_6ac9f7c05692c65cc43f889fcbb3234e http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_0719f04fbb5b95f4a7ddb5b80a41b968 http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_178160191a3624eddbfdea4433fdd116 http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_6a5f6ae0296d7d533fc4c45e881afa4b
date	2010-03-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier	https://doi.org/10.1002/humu.21206 https://pubmed.ncbi.nlm.nih.gov/PMC3429857 https://pubmed.ncbi.nlm.nih.gov/20120036
isPartOf	https://portal.issn.org/resource/ISSN/1059-7794 https://portal.issn.org/resource/ISSN/1098-1004 http://rdf.ncbi.nlm.nih.gov/pubchem/journal/2408
language	English
source	https://pubmed.ncbi.nlm.nih.gov/ https://www.crossref.org/
title	The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
discusses	http://id.nlm.nih.gov/mesh/M0491589 http://id.nlm.nih.gov/mesh/M0288139 http://id.nlm.nih.gov/mesh/M0252299 http://id.nlm.nih.gov/mesh/M0025317 http://id.nlm.nih.gov/mesh/M0022794 http://id.nlm.nih.gov/mesh/M0475665 http://id.nlm.nih.gov/mesh/M0359363 http://id.nlm.nih.gov/mesh/M0019167 http://id.nlm.nih.gov/mesh/M0008344 http://id.nlm.nih.gov/mesh/M0015042 http://id.nlm.nih.gov/mesh/M000745465
hasPrimarySubjectTerm	http://id.nlm.nih.gov/mesh/D016601Q000378 http://id.nlm.nih.gov/mesh/D009154Q000235 http://id.nlm.nih.gov/mesh/D005091Q000235 http://id.nlm.nih.gov/mesh/D004742Q000235 http://id.nlm.nih.gov/mesh/D007438Q000235 http://id.nlm.nih.gov/mesh/D005287Q000235 http://id.nlm.nih.gov/mesh/D006712Q000235 http://id.nlm.nih.gov/mesh/D009687Q000378
hasSubjectTerm	http://id.nlm.nih.gov/mesh/D012333Q000235 http://id.nlm.nih.gov/mesh/D008969 http://id.nlm.nih.gov/mesh/D000068103 http://id.nlm.nih.gov/mesh/D019556 http://id.nlm.nih.gov/mesh/D002522 http://id.nlm.nih.gov/mesh/D022821Q000235 http://id.nlm.nih.gov/mesh/D000090063 http://id.nlm.nih.gov/mesh/D000818 http://id.nlm.nih.gov/mesh/D011485 http://id.nlm.nih.gov/mesh/D006712Q000145 http://id.nlm.nih.gov/mesh/D050505Q000235 http://id.nlm.nih.gov/mesh/D014805Q000378 http://id.nlm.nih.gov/mesh/D012326Q000235 http://id.nlm.nih.gov/mesh/D006712Q000201 http://id.nlm.nih.gov/mesh/D001483 http://id.nlm.nih.gov/mesh/D019295 http://id.nlm.nih.gov/mesh/D012333Q000378
discussesAsDerivedByTextMining	http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_835fefd0263ba33d7ff0e29fc6bae47e http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID10737 http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_6785410f22af00e3a5d8598c0e86b00c http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_f52e7c4612339c86d96a13139558ca02 http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID8037 http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_b95750d137948788b3832f39bbe2deac

Incoming Links

Predicate	Subject
isDiscussedBy	http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID6426 http://rdf.ncbi.nlm.nih.gov/pubchem/gene/GID4552

Total number of triples: 71.