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Article: Genetic screening for familial hypercholesterolaemia in Hong Kong

TitleGenetic screening for familial hypercholesterolaemia in Hong Kong
Authors
Issue Date2018
PublisherHong Kong Academy of Medicine Press. The Journal's web site is located at http://www.hkmj.org/
Citation
Hong Kong Medical Journal, 2018, v. 24 n. 3, suppl. 3, p. S7-S10 How to Cite?
Abstract1. Cascade screening of family members of known index cases is an effective approach to identify new cases of familial hypercholesterolaemia (FH). 2. Family screening is carried out using a combination of plasma lipid profiling and genetic testing. If the causative mutation is unknown or if genetic testing is unavailable, screening can be performed using plasma lipid profiling alone. 3. Over 90% of the FH subjects with a pre-treatment low-density lipoprotein cholesterol level of >8 mmol/L had an identifiable genetic cause. 4. Causative mutations in most FH patients were found in the low-density lipoprotein receptor gene.
DescriptionHealth and Medical Research Fund project number: 01121256
Persistent Identifierhttp://hdl.handle.net/10722/269602
ISSN
2017 Impact Factor: 1.226
2015 SCImago Journal Rankings: 0.279

 

DC FieldValueLanguage
dc.contributor.authorTan, KCB-
dc.contributor.authorCheung, CL-
dc.contributor.authorYeung, CY-
dc.contributor.authorSiu, D-
dc.contributor.authorLeung, J-
dc.contributor.authorPang, HK-
dc.date.accessioned2019-04-24T08:11:01Z-
dc.date.available2019-04-24T08:11:01Z-
dc.date.issued2018-
dc.identifier.citationHong Kong Medical Journal, 2018, v. 24 n. 3, suppl. 3, p. S7-S10-
dc.identifier.issn1024-2708-
dc.identifier.urihttp://hdl.handle.net/10722/269602-
dc.descriptionHealth and Medical Research Fund project number: 01121256-
dc.description.abstract1. Cascade screening of family members of known index cases is an effective approach to identify new cases of familial hypercholesterolaemia (FH). 2. Family screening is carried out using a combination of plasma lipid profiling and genetic testing. If the causative mutation is unknown or if genetic testing is unavailable, screening can be performed using plasma lipid profiling alone. 3. Over 90% of the FH subjects with a pre-treatment low-density lipoprotein cholesterol level of >8 mmol/L had an identifiable genetic cause. 4. Causative mutations in most FH patients were found in the low-density lipoprotein receptor gene.-
dc.languageeng-
dc.publisherHong Kong Academy of Medicine Press. The Journal's web site is located at http://www.hkmj.org/-
dc.relation.ispartofHong Kong Medical Journal-
dc.relation.ispartof香港醫學雜誌-
dc.rightsHong Kong Medical Journal. Copyright © Hong Kong Academy of Medicine Press.-
dc.titleGenetic screening for familial hypercholesterolaemia in Hong Kong-
dc.typeArticle-
dc.identifier.emailTan, KCB: kcbtan@hku.hk-
dc.identifier.emailCheung, CL: lung1212@hku.hk-
dc.identifier.authorityTan, KCB=rp00402-
dc.identifier.authorityCheung, CL=rp01749-
dc.description.naturelink_to_OA_fulltext-
dc.identifier.pmid29937437-
dc.identifier.scopuseid_2-s2.0-85058514802-
dc.identifier.hkuros297358-
dc.identifier.volume24-
dc.identifier.issue3, suppl. 3-
dc.identifier.spageS7-
dc.identifier.epageS10-
dc.publisher.placeHong Kong-

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