Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
MUTATIONS IN THE MYELIN PROTEIN ZERO GENE ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1B
Autore:
LATOUR P; BLANQUET F; NELIS E; BONNEBOUCHE C; CHAPON F; DIRAISON P; OLLAGNON E; DAUTIGNY A; PHAMDINH D; CHAZOT G; BOUCHERAT M; VANBROECKHOVEN C; VANDENBERGHE A;
Indirizzi:
HOP ANTIQUAILLE,BIOCHIM LAB F-69321 LYON 05 FRANCE HOP ANTIQUAILLE,BIOCHIM LAB F-69321 LYON 05 FRANCE UNIV PARIS 06,CNRS,U1488 F-75252 PARIS 05 FRANCE UNIV ANTWERP,DEPT BIOCHEM,BORN BUNGE FDN,NEUROGENET LAB B-2610 ANTWERP BELGIUM CHRU CAEN,SERV NEUROL F-14033 CAEN FRANCE HOP HOTEL DIEU,SERV GENET F-69002 LYON FRANCE HOP NEUROL F-69003 LYON FRANCE UNIV LYON 1,FAC PHARM F-69008 LYON FRANCE
Titolo Testata:
Human mutation
fascicolo: 1, volume: 6, anno: 1995,
pagine: 50 - 54
SICI:
1059-7794(1995)6:1<50:MITMPZ>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY MOTOR; NEUROPATHY TYPE-1; PO GENE; CHROMOSOME 17P11.2; DUPLICATION; CMT1A;
Keywords:
CHARCOT-MARIE-TOOTH DISEASE; MYELIN PO; POINT MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
P. Latour et al., "MUTATIONS IN THE MYELIN PROTEIN ZERO GENE ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1B", Human mutation, 6(1), 1995, pp. 50-54

Abstract

Charcot Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17p11.2 (CMT 1a). Micromutations were found in the gene for peripheral myelin protein 22 (PMP22) located in the duplicated region of CMT la, and in the peripheral myelin protein zero (PO) located on chromosome lq21-q23 (CMT1b). We have characterized two new mutations in the PO gene in two french families presenting CMT disease. Both mutations occur in the extracellular domain of the PO protein. One mutation is a de novo mutationand is from paternal origin. (C) 1995 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 03:21:43