TY  - GEN
AU  - Schejbel,L
AU  - Schmidt,I M
AU  - Kirchhoff,M
AU  - Andersen,C B
AU  - Marquart,H V
AU  - Zipfel,P
AU  - Garred,P
TI  - Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation
SN  - 1476-5470
PY  - 2011///0630
KW  - Alleles
KW  - Blood Proteins
KW  - genetics
KW  - Chromosomes, Human, Pair 1
KW  - Complement C3b Inactivator Proteins
KW  - Complement Factor H
KW  - deficiency
KW  - Complement Pathway, Alternative
KW  - Female
KW  - Gene Expression Regulation
KW  - Genetic Variation
KW  - Glomerulonephritis
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Membrane Cofactor Protein
KW  - Mutation, Missense
KW  - RNA, Messenger
KW  - Sequence Analysis, DNA
KW  - Uniparental Disomy
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/gene.2010.63
ER  -