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The resulting enzyme is thermolabile and in homozygotes, enzymatic activity is depressed to 35% of its usual level. [10] The second variant is a milder one, caused by a homologous 1298C polymorphism. This leads to 68% of the control values of enzyme activity, [10] and it normally does not lead to low serum folate. [9]
The MTHFR nucleotide at position 677 in the gene has two possibilities: C or T . C at position 677 (leading to an alanine at amino acid 222) is the reference allele. The 677T allele (leading to a valine substitution at amino acid 222) encodes a thermolabile alternative enzyme variant with reduced activity. Both reference and alternative ...
Signs of folate deficiency anemia most of the time are subtle. [4] Anemia (macrocytic, megaloblastic anemia) can be a sign of advanced folate deficiency in adults. [1] Folate deficiency anemia may result in feeling tired, weakness, changes to the color of the skin or hair, open sores on the mouth, shortness of breath, palpitations, lightheadedness, cold hands and feet, headaches, easy bleeding ...
"Treatment options focus on managing symptoms and improving quality of life," says Hesterlee. "With appropriate treatment, many people with myasthenia gravis can manage their symptoms effectively ...
4548 238505 Ensembl ENSG00000116984 ENSMUSG00000021311 UniProt Q99707 A6H5Y3 RefSeq (mRNA) NM_000254 NM_001291939 NM_001291940 NM_001081128 RefSeq (protein) NP_000245 NP_001278868 NP_001278869 NP_001074597 Location (UCSC) Chr 1: 236.8 – 236.92 Mb Chr 13: 12.2 – 12.27 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Methionine synthase (MS, MeSe, MTR) is primarily responsible for ...
Insulin resistance, or low insulin sensitivity, happens when cells throughout the body don’t respond properly to the hormone insulin, especially cells in muscles, fat and the liver.
If the disease is associated with cancer, direct treatment of the cancer often relieves the symptoms of LEMS. Other treatments often used are steroids , azathioprine , which suppress the immune system, intravenous immunoglobulin , which outcompetes autoreactive antibody for Fc receptors, and pyridostigmine and 3,4-diaminopyridine , which ...
Jay-Z made rare comments about his wife Beyoncé and their three children after being accused in a civil lawsuit of raping a 13-year-old girl along with Sean "Diddy" Combs in 2000.. On Sunday, Dec ...