“Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease”
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1546-0096
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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“Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease” ; volume:15 ; number:1 ; day:29 ; month:12 ; year:2017 ; pages:1 ; date:12.2017
Pediatric rheumatology ; 15, Heft 1 (29.12.2017), 1, 12.2017
- Keyword
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Hautkrankheit
Dermatologie
- Creator
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Arowolo, Afolake T.
- Contributor
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Adeola, Henry A.
Khumalo, Nonhlanhla P.
SpringerLink (Online service)
- DOI
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10.1186/s12969-017-0215-8
- URN
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urn:nbn:de:1111-2018022411321
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:44 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Arowolo, Afolake T.
- Adeola, Henry A.
- Khumalo, Nonhlanhla P.
- SpringerLink (Online service)
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Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients
Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
ATM mutations in familial pancreatic cancer
Hot-spot KIF5A mutations cause familial ALS
BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
Phototherapy in Scleroderma
New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing
An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3
Targeted next-generation sequencing identifies clinically relevant somatic mutations in a large cohort of inflammatory breast cancer
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients
Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
ATM mutations in familial pancreatic cancer
Hot-spot KIF5A mutations cause familial ALS
BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
Phototherapy in Scleroderma
New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing
An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3