An EcoRI RFLP in the 5' region of the human NF1 gene.
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.
Reyniers
E
E
Department of Medical Genetics, University of Antwerp, Belgium.
De Boulle
K
K
Marchuk
D A
DA
Andersen
L B
LB
Collins
F S
FS
Willems
P J
PJ
D000483:Alleles; D002886:Chromosomes, Human, Pair 17; D015246:Deoxyribonuclease EcoRI; D006801:Humans; D009456:Neurofibromatosis 1 / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D015246:Deoxyribonuclease EcoRI