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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1992-8-31
|
| pubmed:abstractText |
Spectrin Jendouba (alpha II/31) was found in a Tunisian family. In the heterozygous state, it is associated with asymptomatic elliptocytosis and a minimal defect in spectrin dimer self-association. On partial digestion of spectrin with trypsin, an abnormal cleavage appeared following Lys 788. Peptide and DNA sequencing indicated that the responsible mutation is alpha 791 Asp----Glu (GAC----GAA). As in most alpha-spectrin variants associated with elliptocytosis, the change alters helix 3 of the proposed triple helical model of spectrin structure. Modified helix 3 in repeat alpha 8 is the most distant from the N-terminus of alpha-spectrin in known variants associated with elliptocytosis.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
0006-4971
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
1
|
| pubmed:volume |
80
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
N
|
| pubmed:pagination |
809-15
|
| pubmed:dateRevised |
2008-11-21
|
| pubmed:meshHeading |
pubmed-meshheading:1638030-Alleles,
pubmed-meshheading:1638030-Base Sequence,
pubmed-meshheading:1638030-Child,
pubmed-meshheading:1638030-Electrophoresis, Gel, Two-Dimensional,
pubmed-meshheading:1638030-Electrophoresis, Polyacrylamide Gel,
pubmed-meshheading:1638030-Elliptocytosis, Hereditary,
pubmed-meshheading:1638030-Exons,
pubmed-meshheading:1638030-Female,
pubmed-meshheading:1638030-Genetic Variation,
pubmed-meshheading:1638030-Humans,
pubmed-meshheading:1638030-Macromolecular Substances,
pubmed-meshheading:1638030-Male,
pubmed-meshheading:1638030-Molecular Sequence Data,
pubmed-meshheading:1638030-Mutation,
pubmed-meshheading:1638030-Oligodeoxyribonucleotides,
pubmed-meshheading:1638030-Pedigree,
pubmed-meshheading:1638030-Phenotype,
pubmed-meshheading:1638030-Spectrin
|
| pubmed:year |
1992
|
| pubmed:articleTitle |
Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.
|
| pubmed:affiliation |
CNRS URA 1171, Faculté de Médecine Grange-Blanche, Lyon, France.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|