Familial CD8 deficiency due to a mutation in the CD8α gene
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منابع مشابه
Familial Ohtahara syndrome due to a novel ARX gene mutation.
Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that ...
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BACKGROUND Familial neurohypophyseal (central) diabetes insipidus (DI) is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The majority of cases is inherited in an autosomal dominant way. In this study, we present the clinical features of a mother and her son with autosomal dominant neurohypophyseal DI caused by a novel mutation. CASE A thirty-four-year-old woma...
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Complete deficiency of lipoprotein lipase (LPL) causes the chylomicronemia syndrome. To understand the molecular basis of LPL deficiency, two siblings with drastically reduced postheparin plasma lipolytic activities were selected for analysis of their LPL gene. We used the polymerase chain reaction to examine the nine coding LPL exons in the two affected siblings and three relatives. DNA sequen...
متن کاملFamilial thrombosis due to antithrombin 3 deficiency.
A large kindred from eastern Kentucky, with extensive history of recurrent venous thrombasis and pulmonary embolism, was studied. Low antithrombin III titers, ranging from 26% to 49% of normal values, were found in plasma of nine members in three consecutive generations; another five members, four of whom were not available for study, are suspected of having the biochemical defect. There was a ...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2001
ISSN: 0021-9738
DOI: 10.1172/jci10993