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Titolo:
MOLECULAR DIAGNOSIS OF CHARCOT-MARIE-TOOTH IA DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES BY QUANTIFYING CMTIA-REPSEQUENCES - CONSEQUENCES OF RECOMBINATIONS AT VARIANT SITES ON CHROMOSOME 17P11.2-12
Autore:
VANDENBERGHE A; LATOUR P; CHAUPLANNAZ G; CHAPON F; POUGET J; DUMAS R; LAGUENAY A; OLLAGNON E; BOST M; DUTHEL S; CHAZOT G; BOUCHERAT M;
Indirizzi:
UNIV LYON 1,FAC PHARM,NEUROGENET LAB,8 AV ROCKEFELLER F-69373 LYON 08FRANCE HOP ANTIQUAILLE F-69005 LYON FRANCE HOP NEUROL & NEUROCHIRURG P WERTHEIMER F-69003 LYON FRANCE CHU CAEN F-14033 CAEN FRANCE HOP ADULTES TIMONE F-13005 MARSEILLE FRANCE HOP GEN F-21033 DIJON FRANCE HOP HAUT LEVEQUE F-33604 PESSAC FRANCE HOP HOTEL DIEU F-69002 LYON FRANCE
Titolo Testata:
Clinical chemistry
fascicolo: 7, volume: 42, anno: 1996,
pagine: 1021 - 1025
SICI:
0009-9147(1996)42:7<1021:MDOCID>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
TYPE-1A DUPLICATION; GENE;
Keywords:
HERITABLE DISORDERS; GENETIC ANALYSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
25
Recensione:
Indirizzi per estratti:
Citazione:
A. Vandenberghe et al., "MOLECULAR DIAGNOSIS OF CHARCOT-MARIE-TOOTH IA DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES BY QUANTIFYING CMTIA-REPSEQUENCES - CONSEQUENCES OF RECOMBINATIONS AT VARIANT SITES ON CHROMOSOME 17P11.2-12", Clinical chemistry, 42(7), 1996, pp. 1021-1025

Abstract

The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in p11.2-p12. This region contains PMP22, a gene expressed in peripheral myelin. The mutation results fi-om an unequal crossing-over involving repeated sequences, CMT1A-REP, located on both sides of the duplicated region, The reciprocal product of this recombination is a deletion of the same region, which is associated with hereditary neuropathy with liability to pressure palsies (HNPP; OMIM162.500), Proximal and distal CMT1A-REP sequences can be distinguished by the presence of a variant EcoRI site, We quantified the number of these repeat sequences in 36 CMT1A and 40 HNPP patients, CMT1A-REP sequences are involved in almost all of the mutations, The majority of recombination breakpoints occur distally from the variant EcoRI site, However, a few have a breakpoint proximal tothis site, which creates the risk of misinterpretation with respect to a duplicated/deleted status.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 03:05:08