ABg/II RFLP near the human neurofibromatosis type 1 (NF1) gene
نویسندگان
چکیده
منابع مشابه
NF1 gene and neurofibromatosis 1.
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 ...
متن کاملNeurofibromatosis type 1 (NF1): diagnosis and management.
Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a predisposition to benign and malignant tumor formation and the hallmark lesion is the neurofibroma, a benign peripheral nerve sheath tumor. The gene for NF1 was cloned on chromosome 17q11.2 and neurofibromin, the NF1 protein, controls c...
متن کاملcDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.
Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest. Portions of the gene have been recently identified by positional cloning, and sequence analysis has shown homology to the GTPase activating protein (GAP) family. In this report we present the ...
متن کاملChoroidal Abnormalities Detected by Near-Infrared Imaging (NIR) in Pediatric Patients With Neurofibromatosis Type 1 (NF1).
We appreciate the comments by Vagge et al. on our article on choroidal abnormalities related to neurofibromatosis type 1 (NF1) in pediatric patients, aimed at evaluating the diagnostic performance of this new clinical sign as a diagnostic criterion for NF1. The authors have published an interesting paper on this topic, not included in our discussion because it was unavailable at time of manuscr...
متن کاملAn Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1991
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/19.23.6662