Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
HEREDITARY ELLIPTOCYTOSIS ASSOCIATED WITH SPECTRIN LE PUY IN A JAPANESE FAMILY - ULTRASTRUCTURAL ASPECT OF THE RED-CELL SKELETON
Autore:
MARECHAL J; WADA H; KOFFA T; KANZAKI A; WILMOTTE R; IKOMA K; YAWATA A; INOUE T; TAKANASHI K; MIURA A; ALLOISIO N; DELAUNAY J; YAWATA Y;
Indirizzi:
KAWASAKI MED UNIV,DEPT MED,DIV HEMATOL,577 MATSUSHIMA KURASHIKI OKAYAMA 70101 JAPAN KAWASAKI MED UNIV,DEPT MED,DIV HEMATOL KURASHIKI OKAYAMA 70101 JAPAN INST PASTEUR LYON,FAC MED GRANGE BLANCHE,CNRS,URA 1171 LYON FRANCE HONMA HOSP,DEPT MED YAMAGATA JAPAN AKITA UNIV,SCH MED,DEPT INTERNAL MED 3 AKITA 010 JAPAN
Titolo Testata:
European journal of haematology
fascicolo: 2, volume: 52, anno: 1994,
pagine: 92 - 98
SICI:
0902-4441(1994)52:2<92:HEAWSL>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
BETA-CHAIN VARIANT; DELETIONAL FRAMESHIFT MUTATION; SPLICE SITE MUTATION; ERYTHROCYTE-MEMBRANE; NICE BETA-220/216; MOLECULAR DEFECT; ALPHA-SPECTRIN; GENE; PYROPOIKILOCYTOSIS; DOMAIN;
Keywords:
ELLIPTOCYTOSIS; SPECTRIN BETA-CHAIN; SPECTRIN FUNCTION; SPLICE SITE MUTATION; DISORGANIZED CYTOSKELETON;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
36
Recensione:
Indirizzi per estratti:
Citazione:
J. Marechal et al., "HEREDITARY ELLIPTOCYTOSIS ASSOCIATED WITH SPECTRIN LE PUY IN A JAPANESE FAMILY - ULTRASTRUCTURAL ASPECT OF THE RED-CELL SKELETON", European journal of haematology, 52(2), 1994, pp. 92-98

Abstract

A dominantly-inherited hereditary elliptocytosis of intermediate severity was recorded in a Japanese family from Yamagata. The condition was associated with a spectrin truncated beta-chain (MW: 214 kD; 31% of total beta-spectrin), and a defect of mutant spectrin as regards tetramerization and phosphorylation. cDNA analysis revealed skipping of exon X, the third-to-last exon of the spectrin beta-gene. At the gene level, a one-base substitution (A-->G) changed position +4 of the 5' donor splice site consensus sequence of intron X. This mutation has been described before in a French kindred, defining spectrin Le Puy. Electron micrographs following quick-freeze deep-etching showed that the skeletal network was disorganized.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 08:30:11