Ara
Toplam kayıt 7, listelenen: 1-7
Heterogeneous Spectrum Of Mutations In The Fanconi Anaemia Group A Gene
(Stockton Press, 1999)
Fanconi anaemia (FA) is a genetically heterogeneous autosomal recessive disorder associated with chromosomal fragility, bone-marrow failure, congenital abnormalities and cancer. The gene for complementation group A (FAA), ...
Fish Studies In 45 Patients With Rubinstein-Taybi Syndrome: Deletions Associated With Polysplenia, Hypoplastic Left Heart And Death In Infancy
(Nature Publishing Group, 1999)
Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a submicroscopic ...
An Artificial Intelligent Diagnostic System on Differential Recognition of Hematopoietic Cells From Microscopic Images
(Wiley-Liss, 1997)
Despite their advantages, none of the automated white blood cell differential counters have replaced the conventional microscopic evaluations of blood and bone marrow slides by hematologists, We have analyzed the smears ...
The Relative Levels Of Alpha(2)-, Alpha(1)-, And Zeta-Mrna In Hb H Patients With Different Deletional And Nondeletional Alpha-Thalassemia Determinants
(Elsevier Science Bv, 1996)
We have analyzed the alpha(2)/alpha(1)-, alpha/beta-, zeta/(alpha + zeta)-mRNA ratios in the: retic-ulocytes of 40 patients with Hb H disease. 21 patients had deletional Hb H disease (- - / - alpha), namely combinations ...
A Novel Protein Tyrosine Phosphatase Gene is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (Epm2)
(Oxford Univ Press, 1999)
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like ...
The Trypsin-Inhibitory Efficiency Of Human Alpha(2)-Macroglobulin In The Presence Of Alpha(1)-Proteinase Inhibitor: Evidence For The Formation Of An Alpha(2)-Macroglobulin-Alpha(1)-Proteinase Inhibitor Complex
(Harwood Acad Publ Gmbh, Taylor & Francis Group, 1999)
The inhibition of bovine pancreatic trypsin was studied at pH 7, 25 degrees C, using mixtures of purified human alpha(2)-macroglobulin (alpha(2)M) and alpha(1)-proteinase inhibitor (alpha(1)PI). The partitioning of the ...
Predominance of Null Mutations in Ataxia-Telangiectasia
(Oxford Univ Press, 1996)
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition. The responsible gene, AIM, was recently ...