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Titolo:
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy(HNA)
Autore:
Meuleman, J; Kuhlenbaumer, G; Audenaert, D; Hunermund, G; Hor, H; Young, P; Stogbauer, F; Ringelstein, EB; Van Broeckhoven, C; De Jonghe, P; Timmerman, V;
Indirizzi:
Univ Antwerp, Born Bunge Fdn, Flanders Interuniv Inst Biotechnol, B-2610 Antwerp, Belgium Univ Antwerp Antwerp Belgium B-2610 Biotechnol, B-2610 Antwerp, Belgium Univ Hosp Munster, Dept Neurol, Munster, Germany Univ Hosp Munster Munster Germany unster, Dept Neurol, Munster, Germany Univ Hosp Munster, Div Neurol, Munster, Germany Univ Hosp Munster Munster Germany Munster, Div Neurol, Munster, Germany
Titolo Testata:
HUMAN GENETICS
fascicolo: 5, volume: 108, anno: 2001,
pagine: 390 - 393
SICI:
0340-6717(200105)108:5<390:MAO4CG>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
THYMIDINE KINASE GENE; SEPTIN-LIKE FUSION; CHROMOSOME 17Q25; MAP; SEQUENCE; LOCUS; EXPRESSION; REFINEMENT; CLONING; REGION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Timmerman, V Univ Antwerp, Dept Biochem, Genet Mol Lab, Peripheral Neuropathy Grp, UnivPl 1, B-2610 Antwerp, Belgium Univ Antwerp Univ Pl 1 Antwerp Belgium B-2610 twerp, Belgium
Citazione:
J. Meuleman et al., "Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy(HNA)", HUM GENET, 108(5), 2001, pp. 390-393

Abstract

Hereditary neuralgic amyotrophy (HNA) is a rare autosomal dominant disorder. It is characterised by recurrent episodes of focal neuropathy involving the brachial plexus, Genetic linkage analysis has mapped HNA to chromosome 17q25 within a 3.5-cM interval flanked by the short tandem repeat markers D17S785 and D17S802. Here, we report the mutation analysis of four candidategenes. Mutation analysis was performed on the complete coding regions of these genes. Several exonic and intronic single nucleotide polymorphisms were detected. However, no disease-causing mutations were found, indicating that these genes are most probably not involved in the pathogenesis of HNA, In addition, we have characterised and localised a putative pseudogene of the SEC14-like 1 gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/21 alle ore 16:43:16