An EcoRI RFLP in the 5' region of the human NF1 gene.
作者信息
Reyniers E, De Boulle K, Marchuk D A, Andersen L B, Collins F S, Willems P J
机构信息
Department of Medical Genetics, University of Antwerp, Belgium.
出版信息
Hum Genet. 1993 Dec;92(6):631. doi: 10.1007/BF00420953.
PMID:7903272
Abstract
Von Recklinghausen neurofibromatosis or type 1 neurofibromatosis (NF1), is one of the most common autosomal dominant disorders. NF1 is characterized by neurofibromas, café-au-lait spots and Lisch nodules of the iris. The NF1 gene is located in 17q11.2. The restriction fragment length polymorphism reported here will be useful in linkage analysis in NF1 families.
摘要
Zotero 插件