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"Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease".

作者信息

Arowolo Afolake T, Adeola Henry A, Khumalo Nonhlanhla P

机构信息

Hair and Skin Research Laboratory, Division of Dermatology, Department of Medicine, Faculty of Health Sciences and Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.

出版信息

Pediatr Rheumatol Online J. 2017 Dec 29;15(1):88. doi: 10.1186/s12969-017-0215-8.

DOI:10.1186/s12969-017-0215-8
PMID:29287597
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5747945/
Abstract
摘要

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本文引用的文献

1
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.下一代测序技术鉴定出GNPTG基因突变是家族性硬皮病样疾病的病因。
Pediatr Rheumatol Online J. 2017 Sep 26;15(1):72. doi: 10.1186/s12969-017-0200-2.
2
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.FAM111B 基因突变可导致遗传性纤维性异色性皮病伴肌腱挛缩、肌病和肺纤维化。
Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21.
3
Hutchinson-Gilford progeria syndrome with G608G LMNA mutation.亨廷顿氏舞蹈症-吉福德早衰综合征伴 G608G LMNA 突变。
J Korean Med Sci. 2011 Dec;26(12):1642-5. doi: 10.3346/jkms.2011.26.12.1642. Epub 2011 Nov 29.
4
Rothmund-Thomson syndrome.Rothmund-Thomson 综合征。
Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2.
5
Significant elevation of IgG anti-WRN (RecQ3 RNA/DNA helicase) antibody in systemic sclerosis.
Mod Rheumatol. 2006;16(4):229-34. doi: 10.1007/s10165-006-0496-0.