Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms.
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Amino Acid Substitution↗
Biomedical subjects
F Muranaga
Publications and source records attributed to F Muranaga.
Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters.
We report two sisters with hereditary deficiency of the third complement component (C3) and a homozygous mutation at C3303G (Tyr1081Stop) of the gene. They developed systemic lupus erythematosus-like symptoms during adolescence. Their C3 were not detected in serum immunochemically. Their mother and a brother had half of the normal C3 levels and a heterozygous mutation in the same position. Western blot analysis of murine L-cells transfected with the mutant C3 cDNA showed no C3 protein, however mRNA was detectable using reverse-transcriptase polymerase chain reaction. To the best of our knowledge, this is the first report of C3 deficiency due to a stop codon in the gene.
Adolescent↗
Creating clinical path based on analysis using hospital information system.
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Critical Pathways↗
The frontier of nursing in the age of multimedia.
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Communications Media↗
[Construction of an MRI reporting system using the Internet].
Out university hospital, includes a LAN (Local Area Network) and uses network services such as WWW(World Wide Web). We have constructed an MRI diagnostic reporting system on the Internet in which interactive date management was established on WWW by using CGI (Common Gateway Interface) software. Linking database information such as MRI reports with WWW browsers using by CGI provides easy data access to the database and offers hypertext and searching. This system suggests the possibility of creating a cheaper and more flexible network using Internet technology.
Computer Communication Networks↗