نتایج جستجو برای: i mutation

تعداد نتایج: 1302420  

Journal: :Journal of Medical Genetics 2000

Journal: :iranian journal of child neurology 0
massoud houshmand assistant professor of human genetics, genetic department of special medical center & national institute for genetic engineering and biotechnology,medical genetic dep, tehran, iran omid aryani genetic counselor, special medical center, genetic diagnostic laboratory, tehran, iran zahra pirzadeh assistant professor of pediatric neurology, qazvin university of medical sciences, qazvin, iran fereshteh ghasemi genetic technician, special medical center, tehran, iran shadab salehpour freshteh tehrani

glutaric acidemia, type i (ga i), was first described in 1975. the disease is caused by a genetic deficiency of the enzyme, glutaryl-coa dehydrogenase (gcd), which leads to the buildup of glutaric acid in the tissues and its excretion in the urine of affected patients. gcd is involved in the catabolism of the amino acids, lysine, hydroxylysine, and tryptophan. over 200 cases of ga i have been r...

Journal: :International Journal of Life Sciences 2010

Ahmadi MR Ararooti T, Kadivar A Mirzaei A Rowshan Ghasrodashti A Sharifiyazdi H

Background: One of the most important metabolic factors affecting the reproductive activity is insulin-like growth factor-I (IGFI) concentration changes after calving. Recently, Maj et al. (2008) discovered a significant association between the IGF-I genotypes based on the 5'-untranslatedregion (5'-UTR) of IGF-I gene and the IGF-I blood level. The objective of this study is to investi...

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