Linked Life Data

8616073

Source:http://linkedlifedata.com/resource/pubmed/id/8616073

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1996-6-12
pubmed:databankReference
pubmed:abstractText
A survey of PK-deficient patients by molecular biology techniques has been performed in France in 26 unrelated families, in which at least one mutation has been characterized. The patients, of European or North African origin, exhibited approximatively 10% of PK activity. Among the PK-R mutants described, mutation G1529-->A (Arg-509-->Gln) was the most frequent. The strategy followed for the description of PK mutants in France firstly involves determination of this mutation by PCR amplification and restriction enzyme digestion and, secondly, the sequencing of the gene for negative samples. Study of the mutation at residue 509 in 26 unrelated families indicated that 10/52 defective alleles possessed this mutation. Our study described seven different mutations; five of these have not as yet been documented. Two frameshift mutations were found: the deletion of one G base in a repetition of four Gs in position 1231-1234 (PK Mondor), del C-1527 (PK Rouen), and three missense mutations: G382-->C (Ala-114-->Pro) (PK Val-de-Marne), C398-->T (Ser-119-->Phe) (PK Beaujon), A1217-->G (Asn-392-->Ser) (PK Paris). Two mutations which were detected have been reported previously: C760-->T (Glu-240-->End) and G1529-->A (Arg-509-->Gln.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0007-1048
pubmed:author
pubmed:issnType
Print
pubmed:volume
92
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
825-30
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France.
pubmed:affiliation
Unité INSERM U91, Hôpital Henri Mondor, Créteil, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't