先天性无痛无汗症家系的致病变异分析及产前基因诊断.
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| Title: | 先天性无痛无汗症家系的致病变异分析及产前基因诊断. |
|---|---|
| Alternate Title: | Analysis of pathogenic variants and prenatal genetic diagnosis in families with congenital insensitivity to pain with anhidrosis. |
| Authors: | 陈 馨1, 李 双1,2, 蒋宇林1, 任秀智3, 赵秀丽1,2,3 zhaoxiuli@pumch.cn |
| Source: | Basic & Clinical Medicine. Dec2025, Vol. 45 Issue 12, p1619-1625. 7p. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 190268568 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: 先天性无痛无汗症家系的致病变异分析及产前基因诊断. – Name: TitleAlt Label: Alternate Title Group: TiAlt Data: Analysis of pathogenic variants and prenatal genetic diagnosis in families with congenital insensitivity to pain with anhidrosis. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22陈+馨%22">陈 馨</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22李+双%22">李 双</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22蒋宇林%22">蒋宇林</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22任秀智%22">任秀智</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22赵秀丽%22">赵秀丽</searchLink><relatesTo>1,2,3</relatesTo><i> zhaoxiuli@pumch.cn</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Basic+%26+Clinical+Medicine%22">Basic & Clinical Medicine</searchLink>. Dec2025, Vol. 45 Issue 12, p1619-1625. 7p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=190268568 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.16352/j.issn.1001-6325.2025.12.1619 Languages: – Code: chi Text: Chinese PhysicalDescription: Pagination: PageCount: 7 StartPage: 1619 Titles: – TitleFull: 先天性无痛无汗症家系的致病变异分析及产前基因诊断. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: 陈 馨 – PersonEntity: Name: NameFull: 李 双 – PersonEntity: Name: NameFull: 蒋宇林 – PersonEntity: Name: NameFull: 任秀智 – PersonEntity: Name: NameFull: 赵秀丽 IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: Dec2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 10016325 Numbering: – Type: volume Value: 45 – Type: issue Value: 12 Titles: – TitleFull: Basic & Clinical Medicine Type: main |
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