Gene: [22q122/NF2] neurofibromin 2; merlin (schwannomin); neurofibromatosis 2 (bilateral acoustic neurinoma); [BANF ]
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HET |
In contrast to the central type of neurofibromatosis described here, the peripheral neurofibromatosis (Recklinghausen's disease) is determined by a gene localized on Chr 17q112 (GEM:17q112/NF1); extensive information on clinical and molecular genetics of both neurofibromatoses is given in the special issue of J Med Genet, 24, N9, 1987 (1st Europ Symp on NF)." |
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REF |
ABR,FUN "Arai E &: Hum Mol Genet, 3, N6, 937-939, 1994 POL "Bourn D &: Hum Genet, 95, N6, 712, 1995 MUT "Bourn D &: Hum Mol Genet, 3, N5, 813-816, 1994 LOC,CYG,LIN,MOL "Duncan &: Cancer Genet Cytogenet, 25, 169-174, 1987 REV,PAT,MOL "Eldridge R: Adv Neurol, 29, 57-65, 1981 HIS,PHE,FOG "Gardner, Frazier: J Hered, 22, 7-8, 1933 HIS,PHE,FOG "Gardner, Frazier: Arch Neurol Psychiat, 23, 266-302, 1930 GEN,SEQ "Kinzler KW, Vogelstein B: Nature, 363, 495-496, 1993 MUT "Lekanne Deprez RH &: AJHG, 54, N6, 1022-1029, 1994 REV,PAT,MOL "Martuza, Eldridge: New Engl J Med, 318, N11, 684-688, 1988 CLO,SEQ,GEN "Pykett MJ &: Hum Mol Genet, 3, N4, 559-564, 1994 SEQ "Rouleau GA &: Nature, 363, 515-521, 1993 LIN,MAP "Rouleau GA &: CCG, 51, (HGM10), 1070, 1989 LOC,CYG,LIN,MOL "Rouleau GA &: Nature, 329, (17 Sep), 246-248, 1987 MUT "Sainz J &: Hum Mol Genet, 3, N6, 885-891, 1994 REV,PAT,MOL "Seizinger BR &: Science, 236, 317-319, 1987 LOC,CYG,LIN,MOL "Seizinger BR &: Nature, 322, 644-647, 1986 SEQ "Trofatter JA &: Cell, 72, 791-800, 1993 |
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KEY |
onc, neu, derm |
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CLA |
coding, basic |
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LOC |
22 q12.2 |
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MIM |
MIM: 101000 |
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SYN |
BANF |
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