8990018

Source:http://linkedlifedata.com/resource/pubmed/id/8990018

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0010641, umls-concept:C0026882, umls-concept:C0030705, umls-concept:C0033684, umls-concept:C0205314, umls-concept:C0679622, umls-concept:C1556084, umls-concept:C1707271, umls-concept:C1856067
pubmed:issue	1
pubmed:dateCreated	1997-3-19
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9215429
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Cystathionine beta-Synthase, http://linkedlifedata.com/resource/pubmed/chemical/Pyridoxine
pubmed:status	MEDLINE
pubmed:issn	1059-7794
pubmed:author	pubmed-author:AraiGG, pubmed-author:AupetitJJ, pubmed-author:Chadefaux-VekemansBB, pubmed-author:ChasséJ FJF, pubmed-author:CoudéMM, pubmed-author:KamounPP, pubmed-author:LondonJJ, pubmed-author:ZabotM TMT
pubmed:issnType	Print
pubmed:volume	9
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	81-2
pubmed:dateRevised	2004-11-17
pubmed:meshHeading	pubmed-meshheading:8990018-Cells, Cultured, pubmed-meshheading:8990018-Cystathionine beta-Synthase, pubmed-meshheading:8990018-Fibroblasts, pubmed-meshheading:8990018-France, pubmed-meshheading:8990018-Homocystinuria, pubmed-meshheading:8990018-Humans, pubmed-meshheading:8990018-Mutation, pubmed-meshheading:8990018-Pyridoxine
pubmed:year	1997
pubmed:articleTitle	Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.
pubmed:affiliation	Laboratoire de Biochimie Génétique, Centre National de la Recherche Scientifique URA1335 Hôpital Necker-Enfants Malades, Paris, France.
pubmed:publicationType	Journal Article, Case Reports