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- Publisher Website: 10.1006/mgme.2001.3285
- Scopus: eid_2-s2.0-0036351125
- PMID: 11855938
- WOS: WOS:000174355300011
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Article: Novel donor splice site mutation of ABCG5 gene in sitosterolemia
Title | Novel donor splice site mutation of ABCG5 gene in sitosterolemia |
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Authors | |
Keywords | ABCG5 ABCG8 Mutation Sitosterolemia |
Issue Date | 2002 |
Publisher | Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme |
Citation | Molecular Genetics And Metabolism, 2002, v. 75 n. 2, p. 178-180 How to Cite? |
Abstract | In a patient with sitosterolemia, we found two different mutations of the ATP-binding cassette, subfamily G, member 5 (ABCG5) gene. The first is a missense mutation that changes the amino acid residue at position 419 from arginine to histidine, i.e., R419H. The second is a novel splicing mutation affecting the invariant guanine at the first base of the donor splice site of intron 12, i.e., IVS12 + 1G → A. The father of the patient is heterozygous for the missense mutation, and the mother is heterozygous for the splicing mutation. No mutations were found in the sister of the patient. Up until now, the missense mutation has only been found in Japanese patients with sitosterolemia. We believe that R419H in our Chinese patient may have the same origin as the mutation in the Japanese patients with sitosterolemia. © 2002 Elsevier Science (USA). |
Persistent Identifier | http://hdl.handle.net/10722/148280 |
ISSN | 2023 Impact Factor: 3.7 2023 SCImago Journal Rankings: 1.095 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lam, CW | en_US |
dc.contributor.author | Cheng, AWF | en_US |
dc.contributor.author | Tong, SF | en_US |
dc.contributor.author | Chan, YW | en_US |
dc.date.accessioned | 2012-05-29T06:11:58Z | - |
dc.date.available | 2012-05-29T06:11:58Z | - |
dc.date.issued | 2002 | en_US |
dc.identifier.citation | Molecular Genetics And Metabolism, 2002, v. 75 n. 2, p. 178-180 | en_US |
dc.identifier.issn | 1096-7192 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/148280 | - |
dc.description.abstract | In a patient with sitosterolemia, we found two different mutations of the ATP-binding cassette, subfamily G, member 5 (ABCG5) gene. The first is a missense mutation that changes the amino acid residue at position 419 from arginine to histidine, i.e., R419H. The second is a novel splicing mutation affecting the invariant guanine at the first base of the donor splice site of intron 12, i.e., IVS12 + 1G → A. The father of the patient is heterozygous for the missense mutation, and the mother is heterozygous for the splicing mutation. No mutations were found in the sister of the patient. Up until now, the missense mutation has only been found in Japanese patients with sitosterolemia. We believe that R419H in our Chinese patient may have the same origin as the mutation in the Japanese patients with sitosterolemia. © 2002 Elsevier Science (USA). | en_US |
dc.language | eng | en_US |
dc.publisher | Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme | en_US |
dc.relation.ispartof | Molecular Genetics and Metabolism | en_US |
dc.subject | ABCG5 | - |
dc.subject | ABCG8 | - |
dc.subject | Mutation | - |
dc.subject | Sitosterolemia | - |
dc.subject.mesh | Atp-Binding Cassette Transporters - Genetics | en_US |
dc.subject.mesh | Child | en_US |
dc.subject.mesh | Child, Preschool | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Lipoproteins - Genetics | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Mutation, Missense | en_US |
dc.subject.mesh | Rna Splice Sites - Genetics | en_US |
dc.subject.mesh | Sitosterols - Blood | en_US |
dc.title | Novel donor splice site mutation of ABCG5 gene in sitosterolemia | en_US |
dc.type | Article | en_US |
dc.identifier.email | Lam, CW:ching-wanlam@pathology.hku.hk | en_US |
dc.identifier.authority | Lam, CW=rp00260 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1006/mgme.2001.3285 | en_US |
dc.identifier.pmid | 11855938 | - |
dc.identifier.scopus | eid_2-s2.0-0036351125 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0036351125&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 75 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.spage | 178 | en_US |
dc.identifier.epage | 180 | en_US |
dc.identifier.isi | WOS:000174355300011 | - |
dc.publisher.place | United States | en_US |
dc.identifier.issnl | 1096-7192 | - |