Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1991-3-4
pubmed:databankReference
pubmed:abstractText
We have isolated a 1,192-base-long cDNA which encodes the entire structure of a precursor form of human H-protein. The tentatively calculated number of copies for this cDNA appeared to be about four times as many as that of the antithrombin III gene specified by a single locus in the human haploid genome. Southern analysis using H-protein cDNA probe demonstrates a deletion of the 5.0-kb SacI fragment in the genome of a patient with an atypical nonketotic hyperglycinemia in whom there was an inactive H-protein. This SacI fragment was also deleted from the genome of one of seven patients with nonketotic hyperglycinemia resulting from the lesion of glycine decarboxylase. The remaining six patients had common aberrations identified with the 5.2-kb EcoRI and 5.5-kb SacI fragments. Although implication of these defective fragments in pathogenesis is unclear at present, it is suggested that rearrangements occur in multiple genomic loci of patients with nonketotic hyperglycinemia and that this H-protein cDNA can be used for carrier screening.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-13693094, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-13729969, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-2427017, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-271968, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-2958679, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-3297708, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-3348809, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-3395333, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-3522581, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-3585602, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-3951988, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-3979120, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-4395968, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-4585091, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-5352828, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-5462702, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-563996, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-5648598, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-5788511, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-582850, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-6086493, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-6095107, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-6244106, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-6305982, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-6336599, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-6780675, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-6790577, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-6801526, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-7440562, http://linkedlifedata.com/resource/pubmed/commentcorrection/1671321-911786
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
48
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
351-61
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.
pubmed:affiliation
Department of Biochemistry, Toyama Medical and Pharmaceutical University School of Medicine, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't