The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
Saved in:
| Title: | The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. |
|---|---|
| Authors: | Tucci A; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy., Ronzoni L; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy., Arduino C; S.C.D.U. Genetica Medica, A.O. Città della Salute e della Scienza, Torino, Italy., Salmin P; S.C.D.U. Genetica Medica, A.O. Città della Salute e della Scienza, Torino, Italy., Esposito S; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy., Milani D; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy. donatella.milani@policlinico.mi.it. |
| Source: | BMC medical genetics [BMC Med Genet] 2016 Mar 11; Vol. 17, pp. 22. Date of Electronic Publication: 2016 Mar 11. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 26969503 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Tucci+A%22">Tucci A</searchLink>; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ronzoni+L%22">Ronzoni L</searchLink>; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Arduino+C%22">Arduino C</searchLink>; S.C.D.U. Genetica Medica, A.O. Città della Salute e della Scienza, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Salmin+P%22">Salmin P</searchLink>; S.C.D.U. Genetica Medica, A.O. Città della Salute e della Scienza, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Esposito+S%22">Esposito S</searchLink>; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Milani+D%22">Milani D</searchLink>; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy. donatella.milani@policlinico.mi.it. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100968552%22">BMC medical genetics</searchLink> [BMC Med Genet] 2016 Mar 11; Vol. 17, pp. 22. <i>Date of Electronic Publication: </i>2016 Mar 11. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968552 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2350 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712350%22">14712350 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=26969503 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12881-016-0287-1 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 22 Titles: – TitleFull: The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Tucci A – PersonEntity: Name: NameFull: Ronzoni L – PersonEntity: Name: NameFull: Arduino C – PersonEntity: Name: NameFull: Salmin P – PersonEntity: Name: NameFull: Esposito S – PersonEntity: Name: NameFull: Milani D IsPartOfRelationships: – BibEntity: Dates: – D: 11 M: 03 Text: 2016 Mar 11 Type: published Y: 2016 Identifiers: – Type: issn-electronic Value: 1471-2350 Numbering: – Type: volume Value: 17 Titles: – TitleFull: BMC medical genetics Type: main |
| ResultId | 1 |
