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Article: Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred

TitleGenetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred
Authors
KeywordsAmyloid
Familial amyloidotic polyneuropathy
Hong-Kong Chinese
Transthyretin gene
Issue Date2003
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/ANE
Citation
Acta Neurologica Scandinavica, 2003, v. 107 n. 6, p. 419-422 How to Cite?
AbstractFamilial amyloidotic polyneuropathy type 1 (FAP1, MIM176300) is an autosomal dominant disease caused by mutations in the transthyretin (TTR) gene. An extended Chinese kindred of FAP1 was first reported in Hong Kong in 1989, three of the four histologically proven subjects have deceased. TTR gene mutations were not studied then. A DNA-based diagnosis was performed on FAP1 by restriction analysis and direct DNA sequencing was carried out on a symptomatic member of this family who had undergone a liver transplantation. It showed a substitution of thymine by cytosine in the second base of codon 30 in exon 2 of the TTR gene, with the creation of a novel HhaI restriction endonuclease site. Valine is substituted by alanine (V30A) in the mutant TTR. Both restriction analysis and direct sequencing revealed the same mutation in one of the two asymptomatic siblings. This mutation was first reported in a FAP1 family of German descent.
Persistent Identifierhttp://hdl.handle.net/10722/83577
ISSN
2015 Impact Factor: 2.559
2015 SCImago Journal Rankings: 1.203
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorFan, STen_HK
dc.contributor.authorLiu, CLen_HK
dc.contributor.authorTam, SCen_HK
dc.date.accessioned2010-09-06T08:42:41Z-
dc.date.available2010-09-06T08:42:41Z-
dc.date.issued2003en_HK
dc.identifier.citationActa Neurologica Scandinavica, 2003, v. 107 n. 6, p. 419-422en_HK
dc.identifier.issn0001-6314en_HK
dc.identifier.urihttp://hdl.handle.net/10722/83577-
dc.description.abstractFamilial amyloidotic polyneuropathy type 1 (FAP1, MIM176300) is an autosomal dominant disease caused by mutations in the transthyretin (TTR) gene. An extended Chinese kindred of FAP1 was first reported in Hong Kong in 1989, three of the four histologically proven subjects have deceased. TTR gene mutations were not studied then. A DNA-based diagnosis was performed on FAP1 by restriction analysis and direct DNA sequencing was carried out on a symptomatic member of this family who had undergone a liver transplantation. It showed a substitution of thymine by cytosine in the second base of codon 30 in exon 2 of the TTR gene, with the creation of a novel HhaI restriction endonuclease site. Valine is substituted by alanine (V30A) in the mutant TTR. Both restriction analysis and direct sequencing revealed the same mutation in one of the two asymptomatic siblings. This mutation was first reported in a FAP1 family of German descent.en_HK
dc.languageengen_HK
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/ANEen_HK
dc.relation.ispartofActa Neurologica Scandinavicaen_HK
dc.subjectAmyloiden_HK
dc.subjectFamilial amyloidotic polyneuropathyen_HK
dc.subjectHong-Kong Chineseen_HK
dc.subjectTransthyretin geneen_HK
dc.subject.meshAdulten_HK
dc.subject.meshAlanine - geneticsen_HK
dc.subject.meshAmyloid Neuropathies - geneticsen_HK
dc.subject.meshAsian Continental Ancestry Group - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshHong Kongen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMutationen_HK
dc.subject.meshPedigreeen_HK
dc.subject.meshPolyneuropathies - geneticsen_HK
dc.subject.meshPrealbumin - geneticsen_HK
dc.subject.meshValine - geneticsen_HK
dc.titleGenetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindreden_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0001-6314&volume=107&spage=419&epage=422&date=2003&atitle=Genetics+of+familial+amyloidotic+polyneuropathy+in+a+Hong+Kong+Chinese+kindreden_HK
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hken_HK
dc.identifier.emailFan, ST: stfan@hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.identifier.authorityFan, ST=rp00355en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1034/j.1600-0404.2003.00047.xen_HK
dc.identifier.pmid12757474-
dc.identifier.scopuseid_2-s2.0-0037507293en_HK
dc.identifier.hkuros78619en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0037507293&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume107en_HK
dc.identifier.issue6en_HK
dc.identifier.spage419en_HK
dc.identifier.epage422en_HK
dc.identifier.isiWOS:000183050900006-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridMak, CM=34971727200en_HK
dc.identifier.scopusauthoridLam, CW=34570692600en_HK
dc.identifier.scopusauthoridFan, ST=7402678224en_HK
dc.identifier.scopusauthoridLiu, CL=7409789712en_HK
dc.identifier.scopusauthoridTam, SC=7202037323en_HK

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