GENETIC mutationLIVER function testsBILIARY tractOBJECTIVE: Factor 2 and Factor 5 mutations are among the most common procoagulant genetic disorders and are routinely evaluated in donor preparation. Homozygous mutations are contraindicated for surgery, but heterozygous mutations cannot be said to...
Idiopathic Budd-Chiari syndrome in a patient with homozygous factor Leiden and heterozygous Factor G20210A mutation on the prothrombin gene. de Stefano V,... VD Stefano,P Madonna,A Giannino,... - 《Thrombosis Research》 被引量: 22发表: 2000年 Double-homozygosity for factor V Leiden and the...
Subsequently, whole exome sequencing was undertaken leading to the identification of two novel, heterozygous variants in the TSFM gene (NM_001172697.1): one frameshift mutation, c.408_409delGT p.(Leu137Glyfs*24) and a missense variant, c.505C > T p.(Leu169Phe) (Fig. 3A). TSFM ...
Heterozygous hemochromatosis as a risk factor for premature myocardial infarction 来自 NCBI 喜欢 0 阅读量: 20 作者: Sullivan,L J.摘要: Previous studies suggest that risk of premature myocardial infarction is increased by a heritable factor not associated with the conventional risk factors. Among the...
Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit in the PINK1 gene cause recessively inherited early-onset Parkinson disease (PD), heterozygous mutations have been suggested as a susceptibility factor. ... C Eggers,A Schmidt,J Hagenah,... - 《Neurology》...
Expression of growth and differentiation factor-9 in the ovaries of fetal sheep homozygous or heterozygous for the Inverdale prolificacy gene (FecXI). Biol. Reprod. 62, 1479–1485 (2000). Article CAS Google Scholar Lundy, T., Smith, P., O'Connell, A., Hudson, N.L. & McNatty, K....
We identified a heterozygous missense LMAN1 mutation (C475R) in the proband of an Argentinean family of Italian origin (B17). No other mutations were found in this patient. RT-PCR analysis of lymphoblast RNA revealed that only the missense allele is expressed at the mRNA level, indicating tha...
All the mutations existed in a heterozygous state. Conclusions The insertion mutation C in 7142 and the mutations Gly526Asp and Gly542Ser attribute to the pathogenesis of the congenital factor Ⅻ deficiency in Chinese. 展开 关键词: Clotting Factor Ⅻ Polymerase chain reaction Mutation Pedigree ...
To analyze the molecular pathogenesis by analysis of phenotype and gene mutation in families with hereditary coagulation factor V (FⅤ) defect caused by complex heterozygous mutation.#Plasma pro-thrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), FⅤ procoagulant activ...
Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by hapl...