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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:
-
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- 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