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An EcoRI RFLP in the 5' region of the human NF1 gene.

Publication ,  Journal Article
Reyniers, E; De Boulle, K; Marchuk, DA; Andersen, LB; Collins, FS; Willems, PJ
Published in: Hum Genet
December 1993
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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.

Duke Scholars

Douglas Alan Marchuk
Author Douglas Alan Marchuk Molecular Genetics and Microbiology

Published In

Hum Genet

DOI

10.1007/BF00420953

ISSN

0340-6717

Publication Date

December 1993

Volume

92

Issue

6

Start / End Page

631

Location

Germany

Related Subject Headings

  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Genetic
  • Neurofibromatosis 1
  • Humans
  • Genetics & Heredity
  • Deoxyribonuclease EcoRI
  • Chromosomes, Human, Pair 17
  • Alleles
  • 3215 Reproductive medicine
  • 3105 Genetics
 

Citation

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MLA
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Reyniers, E., De Boulle, K., Marchuk, D. A., Andersen, L. B., Collins, F. S., & Willems, P. J. (1993). An EcoRI RFLP in the 5' region of the human NF1 gene. Hum Genet, 92(6), 631. https://doi.org/10.1007/BF00420953
Reyniers, E., K. De Boulle, D. A. Marchuk, L. B. Andersen, F. S. Collins, and P. J. Willems. “An EcoRI RFLP in the 5' region of the human NF1 gene.” Hum Genet 92, no. 6 (December 1993): 631. https://doi.org/10.1007/BF00420953.
Reyniers E, De Boulle K, Marchuk DA, Andersen LB, Collins FS, Willems PJ. An EcoRI RFLP in the 5' region of the human NF1 gene. Hum Genet. 1993 Dec;92(6):631.
Reyniers, E., et al. “An EcoRI RFLP in the 5' region of the human NF1 gene.” Hum Genet, vol. 92, no. 6, Dec. 1993, p. 631. Pubmed, doi:10.1007/BF00420953.
Reyniers E, De Boulle K, Marchuk DA, Andersen LB, Collins FS, Willems PJ. An EcoRI RFLP in the 5' region of the human NF1 gene. Hum Genet. 1993 Dec;92(6):631.
Journal cover image

Published In

Hum Genet

DOI

10.1007/BF00420953

ISSN

0340-6717

Publication Date

December 1993

Volume

92

Issue

6

Start / End Page

631

Location

Germany

Related Subject Headings

  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Genetic
  • Neurofibromatosis 1
  • Humans
  • Genetics & Heredity
  • Deoxyribonuclease EcoRI
  • Chromosomes, Human, Pair 17
  • Alleles
  • 3215 Reproductive medicine
  • 3105 Genetics