Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
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| Title: | Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. |
|---|---|
| Authors: | Morrone, A.1,2, Tylee, K.L.3, Al-Sayed, M.4, Brusius-Facchin, A.C.5, Caciotti, A.1, Church, H.J.3, Coll, M.J.6, Davidson, K.7, Fietz, M.J.8, Gort, L.6, Hegde, M.9, Kubaski, F.5, Lacerda, L.10, Laranjeira, F.10, Leistner-Segal, S.5, Mooney, S.11, Pajares, S.6, Pollard, L.12, Ribeiro, I.10, Wang, R.Y.13 |
| Source: | Molecular Genetics & Metabolism. Jun2014, Vol. 112 Issue 2, p160-170. 11p. |
| Database: | Academic Search Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 96317206 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=96317206 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ymgme.2014.03.004 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 11 StartPage: 160 Titles: – TitleFull: Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Morrone, A. – PersonEntity: Name: NameFull: Tylee, K.L. – PersonEntity: Name: NameFull: Al-Sayed, M. – PersonEntity: Name: NameFull: Brusius-Facchin, A.C. – PersonEntity: Name: NameFull: Caciotti, A. – PersonEntity: Name: NameFull: Church, H.J. – PersonEntity: Name: NameFull: Coll, M.J. – PersonEntity: Name: NameFull: Davidson, K. – PersonEntity: Name: NameFull: Fietz, M.J. – PersonEntity: Name: NameFull: Gort, L. – PersonEntity: Name: NameFull: Hegde, M. – PersonEntity: Name: NameFull: Kubaski, F. – PersonEntity: Name: NameFull: Lacerda, L. – PersonEntity: Name: NameFull: Laranjeira, F. – PersonEntity: Name: NameFull: Leistner-Segal, S. – PersonEntity: Name: NameFull: Mooney, S. – PersonEntity: Name: NameFull: Pajares, S. – PersonEntity: Name: NameFull: Pollard, L. – PersonEntity: Name: NameFull: Ribeiro, I. – PersonEntity: Name: NameFull: Wang, R.Y. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: Jun2014 Type: published Y: 2014 Identifiers: – Type: issn-print Value: 10967192 Numbering: – Type: volume Value: 112 – Type: issue Value: 2 Titles: – TitleFull: Molecular Genetics & Metabolism Type: main |
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