Menkes disease: recent advances and new aspects.
نویسندگان
چکیده
منابع مشابه
Menkes disease: recent advances and new aspects.
Copper is the third most abundant trace element in the body, after iron and zinc, and it is required for the normal function of several important copper enzymes. However, the same element in excess is highly toxic and has detrimental effects. Fine regulation of intracellular copper homeostasis is therefore vitally important and disturbance of this balance is reflected in two hereditary disorder...
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Kinky hair disease (KHD) was first described by Menkes et al.(1). Ten years later Danks et al. suggested that the primary defect is in copper transport leading to copper deficiency(2). It is a Xlinked recessive disorder. The gene for KHD is about 200 kb in size and is located on the long arm of X chromosome (Xql3.3). The cDNA has been recently sequenced and is known to code for a protein of 150...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.4.265