Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
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| Title: | Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8. |
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| Authors: | Yuan, Haiming1,2 (AUTHOR), Wang, Qingming1,2 (AUTHOR), Zeng, Xiumei1 (AUTHOR), He, Peiqing1,2 (AUTHOR), Xu, Wanfang1 (AUTHOR), Guo, Hongmei1 (AUTHOR), Liu, Yanhui1,2 (AUTHOR) yh523120@sina.com, Lin, Yangyang1 (AUTHOR) Doctoral523120@sina.com |
| Source: | Orphanet Journal of Rare Diseases. 4/4/2022, Vol. 17 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: 156106097 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Yuan%2C+Haiming%22">Yuan, Haiming</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Qingming%22">Wang, Qingming</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zeng%2C+Xiumei%22">Zeng, Xiumei</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22He%2C+Peiqing%22">He, Peiqing</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Xu%2C+Wanfang%22">Xu, Wanfang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Guo%2C+Hongmei%22">Guo, Hongmei</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Liu%2C+Yanhui%22">Liu, Yanhui</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> yh523120@sina.com</i><br /><searchLink fieldCode="AR" term="%22Lin%2C+Yangyang%22">Lin, Yangyang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Doctoral523120@sina.com</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 4/4/2022, Vol. 17 Issue 1, p1-7. 7p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=156106097 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-022-02306-9 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 1 Titles: – TitleFull: Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Yuan, Haiming – PersonEntity: Name: NameFull: Wang, Qingming – PersonEntity: Name: NameFull: Zeng, Xiumei – PersonEntity: Name: NameFull: He, Peiqing – PersonEntity: Name: NameFull: Xu, Wanfang – PersonEntity: Name: NameFull: Guo, Hongmei – PersonEntity: Name: NameFull: Liu, Yanhui – PersonEntity: Name: NameFull: Lin, Yangyang IsPartOfRelationships: – BibEntity: Dates: – D: 04 M: 04 Text: 4/4/2022 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 17 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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