20% of hereditary spherocytosis in France gives rise to a relatively homogeneous presentation. Ankyrin gene alterations (60% of the cases in France) create a number of pitfalls. Taken together, hereditary spherocytosis has become amenable to molecular genetics on a routine basis...
(d) In practice, the molecular diagnosis of HE and HS has reached a semi-routine stage that helps very much the paediatricians and haematologists. 展开 关键词: hereditary elliptocytosis hereditary spherocytosis molecular basis DOI: 10.1016/0921-8777(95)00042-9 被引量: 69 ...
Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia in Northern Europeans. The primary molecular defects reside in the red blood ... SW Eber,JM Gonzalez,ML Lux,... - 《Nature Genetics》 被引量: 288发表: 1996年 Fine Structure of the Red Pulp of the Spleen in Here...
Introduction: Hemolytic anaemias often occur in neonates, often presenting with jaundice or encephalopathy. Hereditary spherocytosis is the most common cause, followed by glucose-6-phosphate-dehydrogenase deficiency and ABO isoimmunization. Early diagnosis and laboratory evaluation are crucial for effective ...
Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complicated and difficult to implement. In the present study, we investigated the patterns of genetic ...
In explaining crime from the standpoint of the natural and biological sciences (anatomy, physiology, anthropology, and genetics), such advocates of the “hereditary factors” theory as C. Lombroso, Di Tullio, E. Kretschmer, and F. A. Lange ignored the social causes of crime. The Great ...
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genetics. 1996; 13(2):214–8. PMID: 8640229 10. Gallagher PG. Hematologically important mutations: ankyrin variants in hereditary spherocytosis. Blood cells, molecules, & diseases. 2...
Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding variou... LD Costa,J Galimand,O Fenneteau,... - 《Blood Reviews》 被...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook diaphyseal aclasis (redirected fromhereditary multiple exostoses) Medical Acronyms Wikipedia diaphyseal aclasis [dī′af·sē·əl ′ak·lə·səs] ...