Results 101 to 110 of about 1,408,561 (234)
Complement mediated hemolytic uremic syndrome which is caused by excessive activation of the alternative complement system is a thrombotic microangiopathy.
Osman Yeşilbaş+5 more
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LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance.
Ivanka Dimova, Ivo Kremensky
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NONSENSE MUTATIONS AFFECTING THE his4 ENZYME COMPLEX OF YEAST [PDF]
Barbara Shaffer+2 more
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Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS.
Lijuan Cao+7 more
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Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer
Disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription, coordinated secondary pathway alterations, and increased transcriptional noise.
Adam Shlien+36 more
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Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain. [PDF]
R. M. Winslow+5 more
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A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance
Synpolydactyly 1 (SPD1; OMIM 186000), also known as type II syndactyly, is a dominantly inherited limb malformation that is characterized by an increased number of digits. SPD1 is most commonly caused by polyalanine repeat expansions in the coding region
M. Kurban+4 more
semanticscholar +1 more source
A novel mutation in the leptin gene (W121X) in an Egyptian family
Congenital leptin deficiency is a rare recessively inherited condition due to homozygous mutations in the LEP gene. To date, only nine mutations have been identified in the LEP gene (p.L72S, p.N103K, p.R105W, p.H118L, p.S141C, c.104_106delTCA, c ...
Inas Mazen+4 more
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beta 0 thalassemia, a nonsense mutation in man. [PDF]
Judy C. Chang, Y Kan
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Duchenne muscular dystrophy (DMD) is the most common, lethal, X-linked genetic disease, affecting 1 in 3500 newborn males. It is caused by mutations in the DMD gene.
Vinod Malik+3 more
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