A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.
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| Title: | A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report. |
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| Authors: | Li, Yue1,2 (AUTHOR), Wang, Yumeng1 (AUTHOR), Ming, Yan1 (AUTHOR), Chaolan, Pan1 (AUTHOR), Jia, Zhang1 (AUTHOR), Cheng, Ni1 (AUTHOR), Qiaoyu, Cao1 (AUTHOR), Li, Ming1,3 (AUTHOR) liming01@xinhuamed.com.cn, Tianyi, Xu4 (AUTHOR) lmxuty@163.com |
| Source: | BMC Medical Genomics. 11/1/2021, Vol. 14 Issue 1, p1-7. 7p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 153339000 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Li%2C+Yue%22">Li, Yue</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Yumeng%22">Wang, Yumeng</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ming%2C+Yan%22">Ming, Yan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chaolan%2C+Pan%22">Chaolan, Pan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jia%2C+Zhang%22">Jia, Zhang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cheng%2C+Ni%22">Cheng, Ni</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Qiaoyu%2C+Cao%22">Qiaoyu, Cao</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Ming%22">Li, Ming</searchLink><relatesTo>1,3</relatesTo> (AUTHOR)<i> liming01@xinhuamed.com.cn</i><br /><searchLink fieldCode="AR" term="%22Tianyi%2C+Xu%22">Tianyi, Xu</searchLink><relatesTo>4</relatesTo> (AUTHOR)<i> lmxuty@163.com</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genomics%22">BMC Medical Genomics</searchLink>. 11/1/2021, Vol. 14 Issue 1, p1-7. 7p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=153339000 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12920-021-01109-4 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 1 Titles: – TitleFull: A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Li, Yue – PersonEntity: Name: NameFull: Wang, Yumeng – PersonEntity: Name: NameFull: Ming, Yan – PersonEntity: Name: NameFull: Chaolan, Pan – PersonEntity: Name: NameFull: Jia, Zhang – PersonEntity: Name: NameFull: Cheng, Ni – PersonEntity: Name: NameFull: Qiaoyu, Cao – PersonEntity: Name: NameFull: Li, Ming – PersonEntity: Name: NameFull: Tianyi, Xu IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 11 Text: 11/1/2021 Type: published Y: 2021 Identifiers: – Type: issn-print Value: 17558794 Numbering: – Type: volume Value: 14 – Type: issue Value: 1 Titles: – TitleFull: BMC Medical Genomics Type: main |
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