منابع مشابه
Familial screening for genetic haemochromatosis by means of DNA markers.
Genetic haemochromatosis (HFE) is a frequent and potentially fatal disease. Early phlebotomies may prevent complications. The recessive gene for HFE is unknown but closely linked to the HLA-A locus. No direct test for homozygosity for HFE is currently available, apart from HLA typing within the family of a patient with confirmed HFE. During a reverse genetic approach to identify the gene, we fo...
متن کاملGenetic studies in the sleep disorder narcolepsy.
Narcolepsy is a chronic neurologic disorder characterized by excessive daytime sleepiness and abnormal manifestations of REM sleep including cataplexy, sleep paralysis, and hypnagogic hallucinations. Narcolepsy is both a significant medical problem and a unique disease model for the study of sleep. Research in human narcolepsy has led to the identification of specific HLA alleles (DQB1*0602 and...
متن کاملImmunological and Genetic Aspects of Narcolepsy
Narcolepsy is an increasingly recognized sleep disorder characterized by excessive daytime sleepiness, symptoms of dissociated/abnormal rapid eye movement (REM) sleep, disrupted nocturnal sleep, and cataplexy. Although daytime sleepiness is the most disabling symptom, significantly disrupted sleep at night results in a similar total amount of sleep over 24 hours compared to controls. Many of th...
متن کاملImmunological and Genetic Aspects of Narcolepsy
Narcolepsy is an increasingly recognized sleep disorder characterized by excessive daytime sleepiness, symptoms of dissociated/abnormal rapid eye movement (REM) sleep, disrupted nocturnal sleep, and cataplexy. Although daytime sleepiness is the most disabling symptom, signi!cantly disrupted sleep at night results in a similar amount of sleep over 24 hours compared to controls. Many of the hallm...
متن کاملGenetic Analysis of Southwestern Iranian Patients with Familial Mediterranean Fever
Background: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. Methods: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common ME...
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ژورنال
عنوان ژورنال: Sleep
سال: 1991
ISSN: 0161-8105,1550-9109
DOI: 10.1093/sleep/14.3.270