Gene: [22q122/NF2] neurofibromin 2; merlin (schwannomin); neurofibromatosis 2 (bilateral acoustic neurinoma); [BANF ]


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)."

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

KEY

onc, neu, derm

CLA

coding, basic

LOC

22 q12.2

MIM

MIM: 101000

SYN

BANF

Смотрите также:

  • Нейрофиброматоз
  • Рак молочной железы: гены кандидаты предрасположенности
  • Аллельный дисбаланс: общие сведения
  • Gene: [22q12/ADTB1] adaptin, beta 1 (beta prime); meningioma-associated locus BAM22; [BAM22 AP105A ]
  • Ген NF2
  • NF2 ген (белок мерлин)