7qter deletion with normal Hageman factor. 1981

H Kawashima, and N Taniguchi

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002906 Chromosomes, Human, 6-12 and X The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome. Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D005174 Factor XII Stable blood coagulation factor activated by contact with the subendothelial surface of an injured vessel. Along with prekallikrein, it serves as the contact factor that initiates the intrinsic pathway of blood coagulation. Kallikrein activates factor XII to XIIa. Deficiency of factor XII, also called the Hageman trait, leads to increased incidence of thromboembolic disease. Mutations in the gene for factor XII that appear to increase factor XII amidolytic activity are associated with HEREDITARY ANGIOEDEMA TYPE III. Coagulation Factor XII,Hageman Factor,Factor 12,Factor Twelve
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities

Related Publications

H Kawashima, and N Taniguchi
October 1977, Clinical genetics,
H Kawashima, and N Taniguchi
November 1957, The American journal of medicine,
H Kawashima, and N Taniguchi
January 1961, Thrombosis et diathesis haemorrhagica,
H Kawashima, and N Taniguchi
January 1972, Annals of clinical laboratory science,
H Kawashima, and N Taniguchi
June 1993, Journal of medical genetics,
H Kawashima, and N Taniguchi
March 1995, Nihon rinsho. Japanese journal of clinical medicine,
H Kawashima, and N Taniguchi
December 2004, Nihon rinsho. Japanese journal of clinical medicine,
H Kawashima, and N Taniguchi
January 1978, Folia haematologica (Leipzig, Germany : 1928),
H Kawashima, and N Taniguchi
September 1999, Nihon rinsho. Japanese journal of clinical medicine,
H Kawashima, and N Taniguchi
January 1993, Methods in enzymology,
Copied contents to your clipboard!