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- Publisher Website: 10.1002/(SICI)1096-8628(19970131)68:3<279::AID-AJMG6>3.0.CO;2-H
- Scopus: eid_2-s2.0-0031052396
- PMID: 9024559
- WOS: WOS:A1997WF47500006
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Article: Physical mapping of the chromosome 7 breakpoint region in an SLOS Patient with t(7;20)(q32.1;q!3.2)
Title | Physical mapping of the chromosome 7 breakpoint region in an SLOS Patient with t(7;20)(q32.1;q!3.2) |
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Authors | |
Keywords | Balanced translocation Chromosome 7 Physical map Positional cloning Smith-lemli-opitz syndrome (slos) |
Issue Date | 1997 |
Publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html |
Citation | American Journal Of Medical Genetics, 1997, v. 68 n. 3, p. 279-281 How to Cite? |
Abstract | Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by multiple congenital anomalies and mental retardation. SLOS has an associated defect in cholesterol biosynthesis, but the molecular genetic basis of this condition has not yet been elucidated. Previously our group reported a patient with a de novo balanced translocation [t(7;20)(q32.1;ql3.2)] fitting the clinical and biochemical profile of SLOS. Employing fluorescence in situ hybridization (FISH), a 1.8 Mb chromosome 7-specific yeast artificial chromosome (YAC) was identified which spanned the translocation breakpoint in the reported patient. The following is an update of the on-going pursuit to physically and genetically map the region further, as well as the establishment of candidate genes in the 7q32.1 breakpoint re-gion. ©1997Wiley-Liss,Inc. |
Persistent Identifier | http://hdl.handle.net/10722/44329 |
ISSN | 2021 Impact Factor: 2.578 2020 SCImago Journal Rankings: 1.064 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
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dc.contributor.author | Alley, TL | en_HK |
dc.contributor.author | Scherer, SW | en_HK |
dc.contributor.author | Huizenga, JJ | en_HK |
dc.contributor.author | Tsui, LC | en_HK |
dc.contributor.author | Wallace, MR | en_HK |
dc.date.accessioned | 2007-09-12T03:51:30Z | - |
dc.date.available | 2007-09-12T03:51:30Z | - |
dc.date.issued | 1997 | en_HK |
dc.identifier.citation | American Journal Of Medical Genetics, 1997, v. 68 n. 3, p. 279-281 | en_HK |
dc.identifier.issn | 1552-4825 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/44329 | - |
dc.description.abstract | Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by multiple congenital anomalies and mental retardation. SLOS has an associated defect in cholesterol biosynthesis, but the molecular genetic basis of this condition has not yet been elucidated. Previously our group reported a patient with a de novo balanced translocation [t(7;20)(q32.1;ql3.2)] fitting the clinical and biochemical profile of SLOS. Employing fluorescence in situ hybridization (FISH), a 1.8 Mb chromosome 7-specific yeast artificial chromosome (YAC) was identified which spanned the translocation breakpoint in the reported patient. The following is an update of the on-going pursuit to physically and genetically map the region further, as well as the establishment of candidate genes in the 7q32.1 breakpoint re-gion. ©1997Wiley-Liss,Inc. | en_HK |
dc.language | eng | en_HK |
dc.publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html | en_HK |
dc.relation.ispartof | American Journal of Medical Genetics | en_HK |
dc.subject | Balanced translocation | en_HK |
dc.subject | Chromosome 7 | en_HK |
dc.subject | Physical map | en_HK |
dc.subject | Positional cloning | en_HK |
dc.subject | Smith-lemli-opitz syndrome (slos) | en_HK |
dc.subject.mesh | Smith-lemli-opitz syndrome (slos) | en_HK |
dc.subject.mesh | Positional cloning | en_HK |
dc.subject.mesh | Balanced translocation | en_HK |
dc.subject.mesh | Physical map | en_HK |
dc.subject.mesh | Chromosome 7 | en_HK |
dc.title | Physical mapping of the chromosome 7 breakpoint region in an SLOS Patient with t(7;20)(q32.1;q!3.2) | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0148-7299&volume=68&issue=3&spage=279&epage=281&date=1997&atitle=Physical+mapping+of+the+chromosome+7+breakpoint+region+in+an+SLOS+patient+with+t(7;20)+(q32.1;q13.2) | en_HK |
dc.identifier.email | Tsui, LC: tsuilc@hkucc.hku.hk | en_HK |
dc.identifier.authority | Tsui, LC=rp00058 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | en_HK |
dc.identifier.doi | 10.1002/(SICI)1096-8628(19970131)68:3<279::AID-AJMG6>3.0.CO;2-H | - |
dc.identifier.pmid | 9024559 | - |
dc.identifier.scopus | eid_2-s2.0-0031052396 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0031052396&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 68 | en_HK |
dc.identifier.issue | 3 | en_HK |
dc.identifier.spage | 279 | en_HK |
dc.identifier.epage | 281 | en_HK |
dc.identifier.isi | WOS:A1997WF47500006 | - |
dc.publisher.place | United States | en_HK |
dc.identifier.scopusauthorid | Alley, TL=7004212249 | en_HK |
dc.identifier.scopusauthorid | Scherer, SW=35374654500 | en_HK |
dc.identifier.scopusauthorid | Huizenga, JJ=7005960086 | en_HK |
dc.identifier.scopusauthorid | Tsui, LC=7102754167 | en_HK |
dc.identifier.scopusauthorid | Wallace, MR=14326167000 | en_HK |
dc.identifier.issnl | 1552-4825 | - |