The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene
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چکیده
منابع مشابه
The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene.
Recently the M17S1 gene, encoding an epidermal antigen thought to play a role in cell adhesion, was mapped to chromosome bands 17q11-q12, placing it in the vicinity of the gene for the genetic disorder neurofibromatosis 1 (NF1). The pleomorphic cutaneous lesions of NF1 and the precedent for other genes being embedded within the NF1 gene prompted us to investigate whether the M17S1 gene mapped n...
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Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria. The presentation of many of the clinical features ...
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Correspondence To the Editor: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic neurocutaneous disorder mainly characterized by café-au-lait macules (CALMs), neurofibromas, skinfold freckling, and Lisch nodules. [1] Mutations in the neurofibromin 1 gene (NF1) are known to solely result in NF1. [1] Most NF1 patients with mutations in NF1 are sporadic cases; the mean proportio...
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ژورنال
عنوان ژورنال: Genomics
سال: 1992
ISSN: 0888-7543
DOI: 10.1016/s0888-7543(05)80228-9