Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.
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| Title: | Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature. |
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| Authors: | Luigetti, Marco, Zollino, Marcella, Conti, Guido, Romano, Angela, Sabatelli, Mario |
| Source: | Neurological Sciences. Sep2013, Vol. 34 Issue 9, p1705-1707. 3p. |
| Subjects: | Neuropathy, Genetics of deafness, Point mutation (Biology), Neuroanatomy, Biopsy, Myelin proteins, Charcot-Marie-Tooth disease, Genetics |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 90428772 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=90428772 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10072-012-1277-5 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 3 StartPage: 1705 Subjects: – SubjectFull: Neuropathy Type: general – SubjectFull: Genetics of deafness Type: general – SubjectFull: Point mutation (Biology) Type: general – SubjectFull: Neuroanatomy Type: general – SubjectFull: Biopsy Type: general – SubjectFull: Myelin proteins Type: general – SubjectFull: Charcot-Marie-Tooth disease Type: general – SubjectFull: Genetics Type: general Titles: – TitleFull: Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Luigetti, Marco – PersonEntity: Name: NameFull: Zollino, Marcella – PersonEntity: Name: NameFull: Conti, Guido – PersonEntity: Name: NameFull: Romano, Angela – PersonEntity: Name: NameFull: Sabatelli, Mario IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: Sep2013 Type: published Y: 2013 Identifiers: – Type: issn-print Value: 15901874 Numbering: – Type: volume Value: 34 – Type: issue Value: 9 Titles: – TitleFull: Neurological Sciences Type: main |
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