A Gene Locus Responsible for Reticulate Pigmented Anomaly of the Flexures Maps to Chromosome 17p13.3
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چکیده
منابع مشابه
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.
Hidrotic ectodermal dysplasia (HED), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is characterized by hair defects, nail dystrophy and palmoplantar hyperkeratosis. Biophysical and biochemical studies conducted in HED suggested a molecular abnormality of keratins. We tested eight French-Canadian families segregating HED for link...
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chapter i provides an overview of structural linguistics and touches upon the saussurean dichotomies with the final goal of exploring their relevance to the stylistic studies of literature. to provide evidence for the singificance of the study, chapter ii deals with the controversial issue of linguistics and literature, and presents opposing views which, at the same time, have been central to t...
15 صفحه اولLocus for atrial fibrillation maps to chromosome 6q14-16.
BACKGROUND Atrial fibrillation (AF), the most common clinical arrhythmia, is a major cause of morbidity and mortality. Although AF is often associated with other cardiovascular conditions, many patients present without an obvious etiology. Inherited forms of AF exist, but the causative gene has been defined only in a single family. We have identified a large family (family FAF-1) in which AF se...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2006
ISSN: 0022-202X
DOI: 10.1038/sj.jid.5700271