Twenty-five novel mutations including duplications in the ATP7A gene.
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| Title: | Twenty-five novel mutations including duplications in the ATP7A gene. |
|---|---|
| Authors: | Moizard MP; CHRU de Tours, Service de Génétique, Tours, F-37044, France INSERM U930, Tours, F-37044, France CHU Hôpital Purpan, Service de Génétique médicale, Toulouse, F-31059, France CHU Hôpital d'Enfants Armand-Trousseau, AP-HP, Service de Génétique et Embryologie médicales, Paris, F-75571, France CHU Hôpital d'Enfants Armand-Trousseau, AP-HP, Service de Neuropédiatrie, Paris, F-75012, France Genetica Medica, Università di Pavia, Fondazione IRCCS S. Matteo, Pavia, I-27100, Italie Centre de Référence des Maladies Héréditaires du Métabolisme, INSERM U954. Hôpital d'Enfants, Vandoeuvre les Nancy, F-54511, France CHRU de Tours, Service de Neuropédiatrie, Tours, F-37044 France; Université François Rabelais Tours, F-37044, France., Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M |
| Source: | Clinical genetics [Clin Genet] 2011 Mar; Vol. 79 (3), pp. 243-53. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 21208200 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Twenty-five novel mutations including duplications in the ATP7A gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Moizard+MP%22">Moizard MP</searchLink>; CHRU de Tours, Service de Génétique, Tours, F-37044, France INSERM U930, Tours, F-37044, France CHU Hôpital Purpan, Service de Génétique médicale, Toulouse, F-31059, France CHU Hôpital d'Enfants Armand-Trousseau, AP-HP, Service de Génétique et Embryologie médicales, Paris, F-75571, France CHU Hôpital d'Enfants Armand-Trousseau, AP-HP, Service de Neuropédiatrie, Paris, F-75012, France Genetica Medica, Università di Pavia, Fondazione IRCCS S. Matteo, Pavia, I-27100, Italie Centre de Référence des Maladies Héréditaires du Métabolisme, INSERM U954. Hôpital d'Enfants, Vandoeuvre les Nancy, F-54511, France CHRU de Tours, Service de Neuropédiatrie, Tours, F-37044 France; Université François Rabelais Tours, F-37044, France.<br /><searchLink fieldCode="AU" term="%22Ronce+N%22">Ronce N</searchLink><br /><searchLink fieldCode="AU" term="%22Blesson+S%22">Blesson S</searchLink><br /><searchLink fieldCode="AU" term="%22Bieth+E%22">Bieth E</searchLink><br /><searchLink fieldCode="AU" term="%22Burglen+L%22">Burglen L</searchLink><br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink><br /><searchLink fieldCode="AU" term="%22Mortemousque+I%22">Mortemousque I</searchLink><br /><searchLink fieldCode="AU" term="%22Marmin+N%22">Marmin N</searchLink><br /><searchLink fieldCode="AU" term="%22Dessay+B%22">Dessay B</searchLink><br /><searchLink fieldCode="AU" term="%22Danesino+C%22">Danesino C</searchLink><br /><searchLink fieldCode="AU" term="%22Feillet+F%22">Feillet F</searchLink><br /><searchLink fieldCode="AU" term="%22Castelnau+P%22">Castelnau P</searchLink><br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink><br /><searchLink fieldCode="AU" term="%22Moraine+C%22">Moraine C</searchLink><br /><searchLink fieldCode="AU" term="%22Raynaud+M%22">Raynaud M</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2011 Mar; Vol. 79 (3), pp. 243-53. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=21208200 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/j.1399-0004.2010.01461.x Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 243 Titles: – TitleFull: Twenty-five novel mutations including duplications in the ATP7A gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Moizard MP – PersonEntity: Name: NameFull: Ronce N – PersonEntity: Name: NameFull: Blesson S – PersonEntity: Name: NameFull: Bieth E – PersonEntity: Name: NameFull: Burglen L – PersonEntity: Name: NameFull: Mignot C – PersonEntity: Name: NameFull: Mortemousque I – PersonEntity: Name: NameFull: Marmin N – PersonEntity: Name: NameFull: Dessay B – PersonEntity: Name: NameFull: Danesino C – PersonEntity: Name: NameFull: Feillet F – PersonEntity: Name: NameFull: Castelnau P – PersonEntity: Name: NameFull: Toutain A – PersonEntity: Name: NameFull: Moraine C – PersonEntity: Name: NameFull: Raynaud M IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2011 Mar Type: published Y: 2011 Identifiers: – Type: issn-electronic Value: 1399-0004 Numbering: – Type: volume Value: 79 – Type: issue Value: 3 Titles: – TitleFull: Clinical genetics Type: main |
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