Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
NEW MUTATIONS IN THE X-LINKED FORM OF CHARCOT-MARIE-TOOTH DISEASE
Autore:
LATOUR P; FABREGUETTE A; RESSOT C; BLANQUETGROSSARD F; ANTOINE JC; CALVAS P; CHAPON F; CORBILLON E; OLLAGNON E; STURTZ F; BOUCHERAT M; CHAZOT G; DAUTIGNY A; PHAMDINH D; VANDENBERGHE A;
Indirizzi:
HOP ANTIQUAILLE,LAB NEUROGENET MOL,1 RUE ANTIQUAILLE F-69321 LYON 05 FRANCE HOP ANTIQUAILLE,LAB NEUROGENET MOL F-69321 LYON 05 FRANCE UNIV PARIS 06,CNRS,URA 1488 PARIS FRANCE HOP BELLEVUE,SERV NEUROL ST ETIENNE FRANCE HOP PURPAN,SERV GENET TOULOUSE FRANCE CHRU CAEN,SERV NEUROL CAEN FRANCE HOP NORD AMIENS,SERV NEUROL AMIENS FRANCE HOP HOTEL DIEU,SERV GENET LYON FRANCE HOP NEUROL,NEUROL SERV F-69394 LYON FRANCE
Titolo Testata:
European neurology
fascicolo: 1, volume: 37, anno: 1997,
pagine: 38 - 42
SICI:
0014-3022(1997)37:1<38:NMITXF>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
GAP JUNCTION PROTEIN; SENSORY NEUROPATHY; HEREDITARY MOTOR; CONNEXIN32; GENE; DUPLICATION; LOCUS; GJB1;
Keywords:
CHARCOT-MARIE-TOOTH DISEASE; X-LINKED; CMTX; CONNEXIN 32; DNA MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
P. Latour et al., "NEW MUTATIONS IN THE X-LINKED FORM OF CHARCOT-MARIE-TOOTH DISEASE", European neurology, 37(1), 1997, pp. 38-42

Abstract

Mutations in the gene for connexin 32 are associated with a chromosome X-linked form of Charcot-Marie-Tooth disease. The prevalence of thisform is probably underestimated. We screened 12 candidate families and found 7 missense mutations of which 4 are new. These mutations are located in intra- and extramembraneous parts of the protein. Some mutations are probably present with a higher frequency. This study further confirms variation of connexin 32 mutations with scarcity in the second transmembrane domain and, so far, absence in the fourth transmembrane domain and in the carboxy-terminal region.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 02:55:13