Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation.

Schejbel, L

Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation. [electronic resource] - Genes and immunity Mar 2011 - 90-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1476-5470

10.1038/gene.2010.63 doi


Alleles
Blood Proteins--genetics
Chromosomes, Human, Pair 1--genetics
Complement C3b Inactivator Proteins--genetics
Complement Factor H--deficiency
Complement Pathway, Alternative--genetics
Female
Gene Expression Regulation
Genetic Variation
Glomerulonephritis--genetics
Heterozygote
Homozygote
Humans
Infant
Membrane Cofactor Protein--genetics
Mutation, Missense
RNA, Messenger--genetics
Sequence Analysis, DNA
Uniparental Disomy--genetics