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- Publisher Website: 10.1002/ajmg.a.35793
- Scopus: eid_2-s2.0-84875491941
- PMID: 23495189
- WOS: WOS:000316631300049
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Article: A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies
Title | A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies |
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Authors | |
Issue Date | 2013 |
Citation | American Journal of Medical Genetics (Part A), 2013, v. 161A, p. 918-920 How to Cite? |
Persistent Identifier | http://hdl.handle.net/10722/182010 |
ISI Accession Number ID |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Chung, BHY | en_US |
dc.contributor.author | Luk, HM | en_US |
dc.contributor.author | Lo, IFM | en_US |
dc.contributor.author | Lam, STS | en_US |
dc.contributor.author | Li, RHW | en_US |
dc.date.accessioned | 2013-04-17T07:17:34Z | - |
dc.date.available | 2013-04-17T07:17:34Z | - |
dc.date.issued | 2013 | en_US |
dc.identifier.citation | American Journal of Medical Genetics (Part A), 2013, v. 161A, p. 918-920 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/182010 | - |
dc.language | eng | en_US |
dc.relation.ispartof | American Journal of Medical Genetics (Part A) | en_US |
dc.title | A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies | en_US |
dc.type | Article | en_US |
dc.identifier.email | Chung, BHY: bhychung@hku.hk | en_US |
dc.identifier.email | Li, RHW: raymondli@hku.hk | en_US |
dc.identifier.authority | Chung, BHY=rp00473 | en_US |
dc.identifier.authority | Li, RHW=rp01649 | en_US |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1002/ajmg.a.35793 | - |
dc.identifier.pmid | 23495189 | - |
dc.identifier.scopus | eid_2-s2.0-84875491941 | - |
dc.identifier.hkuros | 213817 | en_US |
dc.identifier.volume | 161A | en_US |
dc.identifier.spage | 918 | en_US |
dc.identifier.epage | 920 | en_US |
dc.identifier.isi | WOS:000316631300049 | - |