Mapping a Gene Defect in Absorptive Hypercalciuria to Chromosome 1q23.3-q241
نویسندگان
چکیده
منابع مشابه
Nocturnal enuresis can be caused by absorptive hypercalciuria.
OBJECTIVE The aim of this study was to determine whether nocturnal enuresis (NE) can be caused by absorptive hypercalciuria. MATERIALS AND METHODS From 1981 to 1995, 406 patients with primary monosymptomatic nocturnal enuresis were studied. Up to 1989 (Group 1), urinary electrolytes and urinary creatinine were not evaluated, but since 1990 (Group 2) these tests have been performed routinely. ...
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To identify the chromosomal location of a gene responsible for familial hypertrophic cardiomyopathy, we used clinical and molecular genetic techniques to evaluate the members of a large kindred. Twenty surviving and 24 deceased family members had hypertrophic cardiomyopathy; 58 surviving members were unaffected. Genetic-linkage analyses were performed with polymorphic DNA loci dispersed through...
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Functional gene description: The sensory systems reponsible for maintenance of equilibrium and balance are ontained within the vestibular portion of the inner ear. The toconial complex, an extracellular structure containing igh-density particles called otoconia, renders the receptor ells of the sensory macular epithelium responsive to gravity. he major matrix protein (otoconin-90, OC90) account...
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BACKGROUND Kidney stone formation is a major socioeconomic problem in humans, involving pain, recurrent treatment and renal insufficiency. As most renal precipitates contain calcium as a major component, hypercalciuria is the main risk factor for renal stone formation. Different forms of hypercalciuria can be classified, which primarily arise from defects in the main organs involved in calcium ...
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Although single chi-square analysis of the North American Rheumatoid Arthritis Consortium (NARAC) data identifies many single-nucleotide polymorphisms (SNPs) with p-values less than 0.05, none remain significant after Bonferroni correction. In contrast, CHROMSCAN evades heavy Bonferroni correction and auto-correlation between SNPs by using composite likelihood to model association across all ma...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1999
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.84.11.6155