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Titolo:
A NOVEL FRAMESHIFT MUTATION IN PMP22 ACCOUNTS FOR HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Autore:
YOUNG P; WIEBUSCH H; STOGBAUER F; RINGELSTEIN B; ASSMANN G; FUNKE H;
Indirizzi:
UNIV MUNSTER,NEUROL KLIN & POLIKLIN D-48129 MUNSTER GERMANY UNIV MUNSTER,INST ARTERIOSKLEROSEFORSCH D-4400 MUNSTER GERMANY UNIV MUNSTER,ZENTRALLAB,INST KLIN CHEM & LAB MED D-4400 MUNSTER GERMANY
Titolo Testata:
Neurology
fascicolo: 2, volume: 48, anno: 1997,
pagine: 450 - 452
SICI:
0028-3878(1997)48:2<450:ANFMIP>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
TOOTH DISEASE TYPE-1A; POINT MUTATION; GENE; DUPLICATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
12
Recensione:
Indirizzi per estratti:
Citazione:
P. Young et al., "A NOVEL FRAMESHIFT MUTATION IN PMP22 ACCOUNTS FOR HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES", Neurology, 48(2), 1997, pp. 450-452

Abstract

Peripheral myelin protein PMP22 deficiency is associated with hereditary neuropathy with liability to pressure palsies (HNPP). Most HNPP cases are caused bg a 1.5-megabase deletion in chromosome 17p11.2-12, a region that contains the PMP22 gene, whereas point: mutations leading to HNPP ape extremely rare, We have identified a family with clinical and electrophysiologic features of HNPP, in which all affected membersare heterozygous carriers of a single base insertion in codon 94. This mutation is predicted to alter the reading frame and to result in a delayed termination signal. We conclude that the functional consequences of the frameshift are equivalent to those of the PMP22 deletion allele.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 02:48:51