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Symptom

by Autosomal Recessive
"... Genetic Information Not a rare disease but incidence is unknown. No known population at increased risk. ETF alpha subunit: 15q23-25 ETF beta subunit 19q13.3 No known common mutations. OMIM # *231680; *130410; *231675; #231680 ..."
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Genetic Information Not a rare disease but incidence is unknown. No known population at increased risk. ETF alpha subunit: 15q23-25 ETF beta subunit 19q13.3 No known common mutations. OMIM # *231680; *130410; *231675; #231680

Characterization of heat, oxidative, and acid stress responses in Brucella melitensis

by Ana Paula Teixeira-gomes, Axel Cloeckaert, Ana P. Teixeira-gomes, Axel Cloeckaert, Michel, S. Zygmunt - Infect Immun , 2000
"... Brucella melitensis is a facultative intracellular pathogen which is able to survive and replicate within phagocytic cells. Therefore, it has to adapt to a range of different hostile environments. In order to understand the mechanisms of intracellular survival employed by virulent B. melitensis 16M, ..."
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dismutase (SOD). Eight other proteins closely matched proteins found in other bacteria: AapJ, alpha-ETF, ClpP, Fe and/or Mn SOD, malate dehydrogenase, IalB, 30S ribosomal protein S1, and pyruvate dehydrogenase E1 component beta subunit. Results indicated that B. melitensis could bring

synthase and

by Laura Strittmatter, Yang Li, Nathan J. Nakatsuka, Sarah E. Calvo, Zenon Grabarek, Vamsi K. Mootha , 2013
"... is a polymorphic human enzyme with malate ..."
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is a polymorphic human enzyme with malate

unknown title

by Laura Strittmatter, Yang Li, Nathan Nakatsuka, Sarah Calvo
"... CLYBL is a polymorphic human enzyme with malate synthase and -methylmalate synthase activity ..."
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CLYBL is a polymorphic human enzyme with malate synthase and -methylmalate synthase activity

Thyrotoxic periodic paralysis

by DO Lien Lam , MD Rajasree J Nair , MD Leslie Tingle , Lien Lam - Baylor University. Medical Center , 2006
"... Thyrotoxic periodic paralysis (TPP), a disorder most commonly seen in Asian men, is characterized by abrupt onset of hypokalemia and paralysis. The condition primarily affects the lower extremities and is secondary to thyrotoxicosis. It has been increasingly reported in the USA due to the rise in t ..."
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dominant disorder caused by a defect in the gene coding for L-type calcium channel 1-subunit (CACNA1S) on chromosome 1q31-32 (2). e neuromuscular presentations of both are identical, and to enhance diagnosis of TPP, physicians need to look for subtle features of hyperthyroidism in the presence

unknown title

by Brett S Abrahams , Daniel H Geschwind
"... Autistic disorder is the most severe end of a group of neurodevelopmental disorders referred to as autism spectrum disorders (ASDs), which share the common feature of dysfunctional reciprocal social interaction. A meta-analysis of ASD prevalence rates suggests that approximately 37 in 10,000 indivi ..."
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in unrelated individuals or the discovery of point mutations within individual genes. The clues obtained by these studies have proven important in our understanding of ASD aetiology. within the 15q11-15q13 locus, ubiquitin protein ligase e3A (UBE3A) and gamma-aminobutyric acid A receptor beta 3 (GABRB3
Results 1 - 6 of 6