factor xi deficiency/arginine

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NakalaMajaribio ya klinikiHati miliki

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6 matokeo

Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency.

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Ingia / Ingia

Factor H, a secretory glycoprotein composed of 20 short consensus repeat modules, is an inhibitor of the complement system. Previous studies of inherited factor H deficiency revealed single amino acid substitutions at conserved cysteine residues, on one allele arginine for cysteine 518 (C518R) and

[Identification of compound heterozygous mutations p.Gly400Val and p.Arg532Ter of the F11 gene in a Chinese patient with hereditary factor XI deficiency].

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Ingia / Ingia

OBJECTIVE To investigate the phenotype and genotype defect characteristics of a Chinese patient with hereditary factor XI deficiency. METHODS The activated partial thromboplastin time (APTT), prothrombin time (PT), FXI activity (FXI:C) of the proband and his relatives were measured by a clotting

Genetic analysis of a pedigree with combined factor XII and factor XI deficiency.

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Ingia / Ingia

The objective of the present study was to identify the gene mutations of factor XI (FXI) and factor XII (FXII) in a Chinese pedigree with combined congenital FXI and FXII deficiencies. The proband was a 40-year-old woman with deficiency in both FXI (49%) and FXII (0%) activities. Blood samples from

Multiple congenital coagulopathies co-expressed with Von Willebrand's disease: the experience of Hemophilia Region III Treatment Centers over 25 years and review of the literature.

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Ingia / Ingia

The haematologist medical directors of the Hemophilia Region III Treatment Centers in the mid-Atlantic Region III of the United States identified individuals in their databases diagnosed with additional congenital coagulopathies co-expressing with Von Willebrand's disease (VWD) and its variants.

Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.

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Ingia / Ingia

Congenital deficiency of factor XI is a rare condition associated with a mild to moderate bleeding diathesis that is most commonly found in persons of Jewish ancestry. The disorder has been reported sporadically in a number of other ethnic groups, but rarely in the black population. We report on the

Genetic studies into inherited and sporadic hemolytic uremic syndrome.

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Ingia / Ingia

Hemolytic uremic syndrome (HUS) in adults carries a high morbidity and mortality, and its cause remains unknown despite many theories. Although familial HUS is rare, it affords a unique opportunity to elucidate underlying mechanisms that may have relevance to acquired HUS. We have undertaken a

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Herbal & Natural Medicine

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