Alpha-Thalassemia/Mental retardation syndrome (ATRX)-A novel maternally inherited splicing mutation identified by clinical exome sequencingWahl, DVogl, IKlein, H.GRost, IYamamoto, RSchoenaich, S VDoelken, S C
β0-Thalassemia due to a Nonsense Mutation at β90 (GAG→TAG) in Human Hemoglobin Gene DNA analysis showed that the condition is a new type of β0-thalassemia caused by a nonsense mutation (GAG→TAG) in codon 90 of the β-globin gene... Y Nomura,K Nanjo,K Miyamura,... - 《Japanes...
Herein we describe a novel alpha-thalassemia (thal) point mutation in the alpha2-globin gene, found in a 3-year-old Tunisian girl who had Hb Bart's (gamma4) at birth, later on presenting with moderate anemia, microcytosis and hypochromia. She had a normal Hb A2 level and no abnormal...
GENETIC mutationALPHA-ThalassemiaSEQUENCE analysisCROSS-sectional methodIMMUNOHISTOCHEMISTRYGLIOMASX-linked intellectual disabilitiesCHI-squared testOXIDOREDUCTASESGliomas are the most common malignancies of the central nervous system. Two molecular profiles involved in gliomagenesis are isocitrate deh...
The invention discloses an alpha and beta thalassemia point mutation screening method, and aims to provide an alpha and beta thalassemia point mutation screening method having the advantages of simplicity, rapidness, low cost and high accuracy. The method is characterized in that the method ...
Molecular analysis of alpha- and beta-thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern Chinadoi:10.1002/jcla.24105genotype distributionMeizhou citythalassemiaHeming WuQingyan HuangZhikang YuZhixiong Zhong...
Thalassemia genotypes were further investigated using an NGS panel targeting the coding regions of the HBA1 , HBA2 , and HBB genes. The αα IVSI1(AGGT> AGAT) mutation was misdiagnosed by routine thalassemia diagnostic methods. NGS results showed that 7 (3 Burmese and 4 Thai originations)...
We have previously reported the isolation of a gene from Xq13 that codes for a putative regulator of transcription (XNP) and has now been shown to be the gene involved in the X-linked alpha-thalassemia with mental retardation (ATR-X) syndrome. The widespread expression and numerous domains ...
doi:10.1016/j.clinbiochem.2011.08.763Amirian Azam and Karimipour Morteza and Taghavi Basmanj Maryam and Kordafshari Alireza and Choubini Mina and Sanjari Arezou and Maryami Fereshteh and Zeinali SirousClinical Biochemistry
18genotypes of α-thalassemia mutations and 27genotypes of β-thalassemia mutations were characterized. The most frequent α gene mutation was --SEA(64.69%), followed by -α3.7(19.93%), -α4.2(7.73%), αCSα (3.97%), and αWSα (2.83%). The six most common β-thalassemia mutations ...