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- Publisher Website: 10.1111/cge.12553
- Scopus: eid_2-s2.0-84946488916
- PMID: 25534311
- WOS: WOS:000364637900008
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Article: Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency
Title | Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency |
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Authors | |
Keywords | Genotype-phenotype correlation Multiple intestinal atresias (MIA) Severe combined immunodeficiency (SCID) TTC7A Whole exome sequencing (WES) |
Issue Date | 2015 |
Publisher | Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE |
Citation | Clinical Genetics, 2015 How to Cite? |
Persistent Identifier | http://hdl.handle.net/10722/211879 |
ISSN | 2023 Impact Factor: 2.9 2023 SCImago Journal Rankings: 1.236 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Yang, W | - |
dc.contributor.author | Lee, PPW | - |
dc.contributor.author | Thong, MK | - |
dc.contributor.author | Ramanujam, TM | - |
dc.contributor.author | Shanmugam, A | - |
dc.contributor.author | Koh, MT | - |
dc.contributor.author | Chan, KW | - |
dc.contributor.author | Ying, D | - |
dc.contributor.author | Wang, Y | - |
dc.contributor.author | Shen, J | - |
dc.contributor.author | Yang, J | - |
dc.contributor.author | Lau, YL | - |
dc.date.accessioned | 2015-07-21T02:14:42Z | - |
dc.date.available | 2015-07-21T02:14:42Z | - |
dc.date.issued | 2015 | - |
dc.identifier.citation | Clinical Genetics, 2015 | - |
dc.identifier.issn | 0009-9163 | - |
dc.identifier.uri | http://hdl.handle.net/10722/211879 | - |
dc.language | eng | - |
dc.publisher | Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE | - |
dc.relation.ispartof | Clinical Genetics | - |
dc.rights | The definitive version is available at www.blackwell-synergy.com | - |
dc.subject | Genotype-phenotype correlation | - |
dc.subject | Multiple intestinal atresias (MIA) | - |
dc.subject | Severe combined immunodeficiency (SCID) | - |
dc.subject | TTC7A | - |
dc.subject | Whole exome sequencing (WES) | - |
dc.title | Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency | - |
dc.type | Article | - |
dc.identifier.email | Yang, W: yangwl@hkucc.hku.hk | - |
dc.identifier.email | Lee, PPW: ppwlee@hku.hk | - |
dc.identifier.email | Chan, KW: kwchan@hku.hk | - |
dc.identifier.email | Ying, D: jonson@hku.hk | - |
dc.identifier.email | Yang, J: jingy09@hku.hk | - |
dc.identifier.email | Lau, YL: lauylung@hku.hk | - |
dc.identifier.authority | Yang, W=rp00524 | - |
dc.identifier.authority | Lee, PPW=rp00462 | - |
dc.identifier.authority | Lau, YL=rp00361 | - |
dc.identifier.doi | 10.1111/cge.12553 | - |
dc.identifier.pmid | 25534311 | - |
dc.identifier.scopus | eid_2-s2.0-84946488916 | - |
dc.identifier.hkuros | 244470 | - |
dc.identifier.isi | WOS:000364637900008 | - |
dc.publisher.place | Denmark | - |
dc.identifier.issnl | 0009-9163 | - |