Novel and recurrent C1 inhibitor gene mutations in nine Japanese patients with hereditary angioedema.
2012
Kazumasa Iwamoto, and
Akio Tanaka, and
Makiko Hiragun, and
Mikio Kawai, and
Shoji Mihara, and
Motoi Takenaka, and
Michiko Shibuya, and
Naoko Inomata, and
Yutaka Hatano, and
Fumiaki Shimizu, and
Takao Kousaka, and
Michihiro Hide
UI
MeSH Term
Description
Entries
D007564
Japan
A country in eastern Asia, island chain between the North Pacific Ocean and the Sea of Japan, east of the Korean Peninsula. The capital is Tokyo.
Bonin Islands
D008297
Male
Males
D008875
Middle Aged
An adult aged 45 - 64 years.
Middle Age
D009154
Mutation
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Mutations
D010641
Phenotype
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Phenotypes
D003174
Complement C1 Inactivator Proteins
Serum proteins that inhibit, antagonize, or inactivate COMPLEMENT C1 or its subunits.
Biochemical identification of mutational changes in a nucleotide sequence.
Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005260
Female
Females
D006801
Humans
Members of the species Homo sapiens.
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328
Adult
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.
Adults
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