Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.
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| Title: | Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. |
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| Authors: | Jaouadi H; Biomedical Genomics and Oncogenetics Laboratory LR16IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia., Kraoua L; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia., Chaker L; Department of Pediatric Cardiology, La Rabta Hospital, Tunis, Tunisia., Atkinson A; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France., Delague V; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France., Levy N; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France., Benkhalifa R; Venoms and Therapeutic Biomolecules Laboratory LR16IPT08, Institut Pasteur de Tunis, Tunis, Tunisia. Rym.BenKhalifa@pasteur.tn., Mrad R; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia., Abdelhak S; Biomedical Genomics and Oncogenetics Laboratory LR16IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia., Zaffran S; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France. stephane.zaffran@univ-amu.fr. |
| Source: | Journal of human genetics [J Hum Genet] 2018 Oct; Vol. 63 (10), pp. 1077-1082. Date of Electronic Publication: 2018 Jul 25. |
| Publication Type: | Case Reports; Clinical Trial; Journal Article |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 30046096 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Jaouadi+H%22">Jaouadi H</searchLink>; Biomedical Genomics and Oncogenetics Laboratory LR16IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia.<br /><searchLink fieldCode="AU" term="%22Kraoua+L%22">Kraoua L</searchLink>; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.<br /><searchLink fieldCode="AU" term="%22Chaker+L%22">Chaker L</searchLink>; Department of Pediatric Cardiology, La Rabta Hospital, Tunis, Tunisia.<br /><searchLink fieldCode="AU" term="%22Atkinson+A%22">Atkinson A</searchLink>; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Delague+V%22">Delague V</searchLink>; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Levy+N%22">Levy N</searchLink>; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Benkhalifa+R%22">Benkhalifa R</searchLink>; Venoms and Therapeutic Biomolecules Laboratory LR16IPT08, Institut Pasteur de Tunis, Tunis, Tunisia. Rym.BenKhalifa@pasteur.tn.<br /><searchLink fieldCode="AU" term="%22Mrad+R%22">Mrad R</searchLink>; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.<br /><searchLink fieldCode="AU" term="%22Abdelhak+S%22">Abdelhak S</searchLink>; Biomedical Genomics and Oncogenetics Laboratory LR16IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia.<br /><searchLink fieldCode="AU" term="%22Zaffran+S%22">Zaffran S</searchLink>; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France. stephane.zaffran@univ-amu.fr. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2018 Oct; Vol. 63 (10), pp. 1077-1082. <i>Date of Electronic Publication: </i>2018 Jul 25. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Clinical Trial; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30046096 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s10038-018-0492-1 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1077 Titles: – TitleFull: Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Jaouadi H – PersonEntity: Name: NameFull: Kraoua L – PersonEntity: Name: NameFull: Chaker L – PersonEntity: Name: NameFull: Atkinson A – PersonEntity: Name: NameFull: Delague V – PersonEntity: Name: NameFull: Levy N – PersonEntity: Name: NameFull: Benkhalifa R – PersonEntity: Name: NameFull: Mrad R – PersonEntity: Name: NameFull: Abdelhak S – PersonEntity: Name: NameFull: Zaffran S IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: 2018 Oct Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 1435-232X Numbering: – Type: volume Value: 63 – Type: issue Value: 10 Titles: – TitleFull: Journal of human genetics Type: main |
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