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Titolo:
Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicingfactor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA)
Autore:
Kuhlenbaeumer, G; Meuleman, J; Schirmacher, A; Stoegbauer, F; Ringelstein, EB; Wehnert, M; Hoeltzenbein, M; Van Broeckhoven, C; Timmerman, V;
Indirizzi:
Universstelling Antwerp, Dept Biochem, Neurogenet Lab, Born Bunge Fdn,Fland Univ Instelling Antwerp Wilrijk Belgium B-2610 Lab, Born Bunge Fdn,Fland Univ Hosp Munster, Dept Neurol, Munster, Germany Univ Hosp Munster Munster Germany unster, Dept Neurol, Munster, Germany Univ Greifswald, Inst Human Genet, Greifswald, Germany Univ Greifswald Greifswald Germany nst Human Genet, Greifswald, Germany
Titolo Testata:
ANNALS OF HUMAN GENETICS
, volume: 62, anno: 1998,
parte:, 5
pagine: 397 - 400
SICI:
0003-4800(199809)62:<397:MAOAPS>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOME 17Q;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
9
Recensione:
Indirizzi per estratti:
Indirizzo: Kuhlenbaeumer, G Universstelling Antwerp, Dept Biochem, Neurogenet Lab, Born Bunge Fdn,Fland Univ Instelling Antwerp Univ Plein 1 Wilrijk Belgium B-2610
Citazione:
G. Kuhlenbaeumer et al., "Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicingfactor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA)", ANN HUM GEN, 62, 1998, pp. 397-400

Abstract

HNA is an autosomal dominant recurrent focal neuropathy involving the brachial plexus. The etiology of HNA is unknown but the genetic defect most likely affects a non-neuronal tissue. We previously described linkage to chromosome 17q24-q25 in two HNB-families. Here we report the mutation analysis of two candidate genes: a cDNA encoding a putative sialyltransferase and theSFRS2 splicing factor including the c-myb ET-locus which is encoded on theopposite strand of the SFRS2 gene. The complete protein coding regions of both genes were studied by direct DNA sequencing. We did not find a diseaseassociated mutation indicating that these genes are most likely not involved in the pathogenesis of HNA. However, me identified and characterized a rare AvaII polymorphism in the SFRS2 gene and detected a sequencing error, leading to an amino acid change (Val11Leu) in the published sequence of the putative sialyltransferase.

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Documento generato il 20/01/21 alle ore 12:36:19