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Titolo:
A DELETIONAL FRAMESHIFT MUTATION IN SPECTRIN BETA-GENE ASSOCIATED WITH HEREDITARY ELLIPTOCYTOSIS IN SPECTRIN NAPOLI
Autore:
WILMOTTE R; DELGIUDICE EM; MARECHAL J; PERROTTA S; DEMATTIA D; DELAUNAY J; IOLASCON A;
Indirizzi:
UNIV NAPLES 2,DIPARTIMENTO PEDIAT,CLIN PEDIAT 1,VIA S ANDREA DAME 4 I-80138 NAPLES ITALY UNIV NAPLES 2,DIPARTIMENTO PEDIAT,CLIN PEDIAT 1 I-80138 NAPLES ITALY INST PASTEUR,CNRS,URA 1171 LYON FRANCE UNIV BARI,DEPT PAEDIAT BARI ITALY
Titolo Testata:
British Journal of Haematology
fascicolo: 2, volume: 88, anno: 1994,
pagine: 437 - 439
SICI:
0007-1048(1994)88:2<437:ADFMIS>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
MEMBRANE; SITE;
Keywords:
HEREDITARY ELLIPTOCYTOSIS; SPECTRIN BETA-CHAIN; FRAMESHIFT MUTATION;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
13
Recensione:
Indirizzi per estratti:
Citazione:
R. Wilmotte et al., "A DELETIONAL FRAMESHIFT MUTATION IN SPECTRIN BETA-GENE ASSOCIATED WITH HEREDITARY ELLIPTOCYTOSIS IN SPECTRIN NAPOLI", British Journal of Haematology, 88(2), 1994, pp. 437-439

Abstract

We studied a clinically manifest, dominantly transmitted elliptocytosis in an Italian family. We found a new spectrin variant, designated spectrin Napoli. Its beta-chain was truncated in its C-terminal region (apparent MW 216 kD). It displayed a low expression level(15%). There was a 8 nt deletion: CTTTTGAGAAGT --> TGT (nt 6255-6262), starting after codon 2053. This deletion was followed by a 54nt (18 amino acids) missense sequence and terminated by the TGA triplet which normally overlaps codons 2074 and 2075 (CTTGAG). The overall length of the mutated beta-chain was comparable to that found in spectrin Nice, spectrin Tokyo and spectrin Tandil, which are other variants with truncated beta-chains; however, a distinct nonsense codon was used in spectrin Napoli.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 14:33:31