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- Title
A Chinese family with lipoid proteinosis resulting from a homozygous missense mutation in the extracellular matrix protein 1 gene.
- Authors
Wang, X. P.; Huo, J.; Liu, Y.; Wang, W. J.; Xu, Q. Q.; Ma, J. H.; An, J. G.; Wang, J. M.; Xiao, S. X.
- Abstract
The article presents a case study of a Chinese family with lipoid proteinosis due to homozygous missense mutation in the extracellular matrix protein 1 gene. Peripheral blood samples from the affected individuals, their parents, and 50 controls were extracted with DNA. A homozygous single nucleotide substitution in exon 6 in the proband was revealed in the direct sequencing.
- Subjects
CASE studies; EXTRACELLULAR matrix proteins; DNA; EXONS (Genetics); NUCLEOTIDES
- Publication
Journal of the European Academy of Dermatology & Venereology, 2009, Vol 23, Issue 11, p1336
- ISSN
0926-9959
- Publication type
Letter
- DOI
10.1111/j.1468-3083.2009.03207.x