Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families.
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| Title: | Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families. |
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| Authors: | Rahman OU; Biochemistry Department, Swat Medical College, Swat, Pakistan., Kim J; Department of Biotechnology, Sungshin Women's University, Seoul, Republic of Korea., Mahon C; Department of Dermatology, Christchurch School of Medicine, Christchurch Hospital, University of Otago, Christchurch, New Zealand., Jelani M; Centre for Omic Sciences, Islamia College Peshawar, Khyber Pakhtunkhwa, Pakistan. mjelani@icp.edu.pk., Kang C; Department of Biotechnology, Sungshin Women's University, Seoul, Republic of Korea. ckang@sungshin.ac.kr. |
| Source: | Genes & genomics [Genes Genomics] 2021 May; Vol. 43 (5), pp. 471-478. Date of Electronic Publication: 2021 Mar 09. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: The Korean Society of Genetics Country of Publication: Korea (South) NLM ID: 101481027 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-9293 (Electronic) Linking ISSN: 19769571 NLM ISO Abbreviation: Genes Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33687658 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Rahman+OU%22">Rahman OU</searchLink>; Biochemistry Department, Swat Medical College, Swat, Pakistan.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Department of Biotechnology, Sungshin Women's University, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Mahon+C%22">Mahon C</searchLink>; Department of Dermatology, Christchurch School of Medicine, Christchurch Hospital, University of Otago, Christchurch, New Zealand.<br /><searchLink fieldCode="AU" term="%22Jelani+M%22">Jelani M</searchLink>; Centre for Omic Sciences, Islamia College Peshawar, Khyber Pakhtunkhwa, Pakistan. mjelani@icp.edu.pk.<br /><searchLink fieldCode="AU" term="%22Kang+C%22">Kang C</searchLink>; Department of Biotechnology, Sungshin Women's University, Seoul, Republic of Korea. ckang@sungshin.ac.kr. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101481027%22">Genes & genomics</searchLink> [Genes Genomics] 2021 May; Vol. 43 (5), pp. 471-478. <i>Date of Electronic Publication: </i>2021 Mar 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22The+Korean+Society+of+Genetics%22">The Korean Society of Genetics </searchLink><i>Country of Publication: </i>Korea (South) <i>NLM ID: </i>101481027 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2092-9293 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2219769571%22">19769571 </searchLink><i>NLM ISO Abbreviation: </i>Genes Genomics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33687658 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s13258-021-01071-6 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 471 Titles: – TitleFull: Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Rahman OU – PersonEntity: Name: NameFull: Kim J – PersonEntity: Name: NameFull: Mahon C – PersonEntity: Name: NameFull: Jelani M – PersonEntity: Name: NameFull: Kang C IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2021 May Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 2092-9293 Numbering: – Type: volume Value: 43 – Type: issue Value: 5 Titles: – TitleFull: Genes & genomics Type: main |
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