The family we describe demonstrates the recessive inheritance of a recently recognized class of genetic bleeding disorders, we call "autosomal hemophilia." We conclude that vWF mutation may be an under recognized cause of hemophilia, especially in cases where the inheritance pattern is not consistent ...
angiohemophilia,vascular hemophilia,von Willebrand's disease- aformofhemophiliadiscoveredbyErikvonWillebrand;ageneticdisorderthatisinheritedas anautosomalrecessivetrait;characterizedby adeficiencyofthecoagulationfactorandbymucosalbleeding blood disease,blood disorder- adiseaseordisorderoftheblood ...
Is hemophilia autosomal recessive or dominant?Autosomal versus Sex Chromosomes:There are two types of chromosomes in many types of eukaryotic organisms, autosomes and sex chromosomes. Autosomes are body chromosomes and do not play a role in sex determination, whereas sex chromosomes do....
Clinically indistinguishable from hemophilia A Hemophilia C: Affects males and females equally May beautosomal recessiveAutosomal recessiveAutosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes. Autosomal recessive diseases are only expressed wh...
At this time, however, a severely limiting factor for... BE Ginsburg,TM Werick,JI Escobar,... - 《Behavior Genetics》 被引量: 266发表: 1996年 Novel high‐throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital ...
Hemophilia — Sex-linked recessive Hemophilioid state A Parahemophilia; Ac globulin, labile factor, or proaccelerin deficiency Autosomal dominant with reduced penetrance4,19,23 Hemophilioid state B SPCA, proconvertin, or stable factor deficiency Autosomal dominant13,19 Hemophilioid state C PTC defi...
An X-linked, recessive hemorrhagic trait or gene induces Hemophilia A. Hemophilia A's X-linked trait manifests as a congenital absence or decrease in plasma clotting Factor VIII, a pro-coagulation cofactor and robust initiator of thrombin that is essential for the generation of adequate amounts ...
英英释义 a form of hemophilia discovered by Erik von Willebrand; a genetic disorder that is inherited as an autosomal recessive trait; characterized by a deficiency of the coagulation factor and by mucosal bleeding 访问沪江小D查看vascular hemophilia的更多详细解释>...
a form of hemophilia discovered by Erik von Willebrand; a genetic disorder that is inherited as an autosomal recessive trait; characterized by a deficiency of the coagulation factor and by mucosal bleeding相似短语 vascular hemophilia phr. 血管性血友病 hemophilia D 丁型血友病 hemophilia vera 真性...
英[ænɡi:əʊhi:mə'fɪlɪə] 美[ænɡioʊhimə'fɪlɪr] 释义 [医]血管血友病;血管性血友病 英英释义 Noun 1. a form of hemophilia discovered by Erik von Willebrand; a genetic disorder that is inherited as an autosomal recessive trait; characterized by a deficiency...