نتایج جستجو برای: new mutation

تعداد نتایج: 2104375  

Journal: :Bunseki Kagaku 2022

The epidermal growth factor receptor (EGFR) T790M mutation, a missense mutation from CpG cytosine to thymine, in non-small cell lung cancer is drug-resistant induced by the administration of tyrosine kinase inhibitors (TKIs). It important detect this with high sensitivity, as effective therapies have been developed for patients mutation. We confirmed that at point methylated various tissues, an...

Journal: :Archives of dermatology 2006
Joanna M Burch Hiva Fassihi Catherine A Jones Sarah C Mengshol James E Fitzpatrick John A McGrath

BACKGROUND Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal ke...

Journal: :iranian journal of allergy, asthma and immunology 0
behnaz esmaeili immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran mohsen ghadami endocrinology and metabolism research institute (emri), tehran university of medical sciences, tehran, iran mohammad reza fazlollahi immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran shirin niroomanesh department of prenatalogy, zanan hospital, tehran university of medical sciences, tehran, iran lida atarod department of pediatrics, imam khomeini hospital, tehran university of medical sciences, tehran, iran zahra chavoshzadeh pediatric infection research center, mofid hospital, shaheed beheshti university of medical sciences, tehran, iran

leukocyte adhesion deficiency type-1(lad-1) is one of the autosomal recessive immunodeficiency diseases that results from mutation in integrin beta 2 (itgb2) gene. the aim of this study was to investigate molecular prenatal diagnosis of lad-1. four pregnant women with five fetuses (one twin fetus) with clinical and laboratory diagnosis of lad-1 in their previous children were studied. the chori...

Journal: :Proceedings of the National Academy of Sciences 1973

Journal: :Open Journal of Internal Medicine 2012

Journal: :Journal of Mathematics and Computer Science 2014

Journal: :Actas Dermo-Sifiliográficas (English Edition) 2010

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