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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1995-10-5
|
| pubmed:abstractText |
We have examined DNA from fifteen unrelated pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia (HNSHA) for the molecular alterations responsible for the enzyme deficiency. All but 3 of the 30 putative mutations were identified. Fourteen different mutations were found. Nine were missense mutations: 320 T-->C, 823 G-->C, 1276 C-->T, 1378 G-->A, 1484 C-->T, 1529 G-->A, 1654 G-->A, 1675 C-->G; three were nonsense mutations: 603 G-->A, 721 G-->T, 1501 C-->T; one was an insertion at 1574 GGG-->GGGG and the other a three nucleotide in-frame deletion 391-392-393 ATC. Eight of these mutations have not been previously described. We also investigated all of the patients for the C/A polymorphism at nt 1705 and the microsatellite ATT repeat in intron 11. All of the mutations that had previously been reported by us (391-393del, 721T, 1484T, 1529A) were found in the context of the same haplotype as the earlier cases, supporting the concept that each may have a single origin.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1079-9796
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
21
|
| pubmed:geneSymbol |
PKLR,
PKM2
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
49-55
|
| pubmed:dateRevised |
2008-11-21
|
| pubmed:meshHeading |
pubmed-meshheading:7655861-Anemia, Hemolytic, Congenital Nonspherocytic,
pubmed-meshheading:7655861-Base Sequence,
pubmed-meshheading:7655861-DNA, Satellite,
pubmed-meshheading:7655861-DNA Mutational Analysis,
pubmed-meshheading:7655861-Ethnic Groups,
pubmed-meshheading:7655861-Female,
pubmed-meshheading:7655861-Haplotypes,
pubmed-meshheading:7655861-Humans,
pubmed-meshheading:7655861-Isoenzymes,
pubmed-meshheading:7655861-Male,
pubmed-meshheading:7655861-Molecular Sequence Data,
pubmed-meshheading:7655861-Mutation,
pubmed-meshheading:7655861-Pedigree,
pubmed-meshheading:7655861-Polymorphism, Genetic,
pubmed-meshheading:7655861-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:7655861-Promoter Regions, Genetic,
pubmed-meshheading:7655861-Pyruvate Kinase,
pubmed-meshheading:7655861-Repetitive Sequences, Nucleic Acid
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.
|
| pubmed:affiliation |
Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|