Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

Authors :: Bahuau M
Laurendeau I
Pelet A
Assouline B
Lamireau T
Taine L
Le Bail B
Vergnes P
Gallet S
Vidaud M
Lyonnet S
Lacombe D
Vidaud D
Source :: Journal of medical genetics [J Med Genet] 2000 Feb; Vol. 37 (2), pp. 146-50.
Publication Year :: 2000

Subjects :: Base Sequence
Child, Preschool
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 16
Colon metabolism
Colon pathology
Exons
Facies
Female
Humans
Molecular Sequence Data
Pedigree
Gene Duplication
Genes, Neurofibromatosis 1 genetics
Intestinal Diseases genetics
Neurofibromatosis 1 genetics
Translocation, Genetic

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