Forty-two novelCOL7A1mutations and the role of a frequent single nucleotide polymorphism in theMMP1promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort-Reference-Cited by-同舟云学术

Forty-two novelCOL7A1mutations and the role of a frequent single nucleotide polymorphism in theMMP1promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

Published:2009-11 Issue:5 Volume:161 Page:1089-1097
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Kern J.S.,Grüninger G.,Imsak R.,Müller M.L.,Schumann H.,Kiritsi D.,Emmert S.,Borozdin W.,Kohlhase J.,Bruckner-Tuderman L.,Has C.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2009.09333.x/fullpdf

Reference31 articles.

1. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J Am Acad Dermatol,2008

2. Update on diagnosis and therapy of inherited epidermolysis bullosa;Kern;Expert Rev Dermatol,2008

3. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes;Varki;J Med Genet,2007

4. Molecular basis of inherited skin-blistering disorders, and therapeutic implications;Aumailley;Expert Rev Mol Med,2006

5. Molecular and diagnostic aspects of genetic skin fragility;Has;J Dermatol Sci,2006

Cited by 73 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Functional genotype-phenotype associations in recessive dystrophic epidermolysis bullosa;Journal of the American Academy of Dermatology;2024-09

2. The role of ecology in the region of residence of patients with epidermolysis bullosa and during the experiment;Russian Journal of Skin and Venereal Diseases;2024-08-04

3. Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center;Cureus;2024-05-27

4. Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum;PLOS ONE;2023-10-26

5. A case of adult‐onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763*;The Journal of Dermatology;2023-10-18