Gene: [09q34/TSC1] tuberous sclerosis 1;


HET

Three other loci accounting for the development of tuberous sclerosis have been identified in the human genome: GEM:16p133/TSC2, GEM:12q2/TSC3, and GEM:11q22/TSC4."

REF

LOC "Au KS &: J Med Genet, 33, 559-561, 1996
LOC "Carbonara C &: Genes Chromosom Cancer, 15, 18-25, 1996
LOC "Carbonara C &: Hum Mol Genet, 3, 1829-1832, 1994
LOC,LIN,MAP "Connor &: CCG, 44, 63-64, 1987
LOC "Cook JA &: J Med Genet, 33, 480-484, 1996
LOC,LIN,MAP "Fryer AE &: Lancet, 1, 659-661, 1987
FUN "Green AJ &: Hum Mol Genet, 3, 1833-1834, 1994
COM,LIN,PAT "Haines JL &: AJHG, 49, N4, 764-772, 1991
LOC,LIN,MAP "Haines JL &: CCG, 51, (HGM10), 1010, 1989
LOC "Henske EP &: AJHG, 59, 400-406, 1996
PAT "McGrae JD, Hashimoto K: Brit J Derm, 134, 727-730, 1996
LIN,HET "Northrup H &: AJHG, 51, 709-720, 1992
LIN,HET "Povey S &: Ann Hum Genet, 58, 107-127, 1994
LOC,LIN,MAP "Povey S &: Lancet, 2, 279-280, 1988
LIN,HET "Short MP &: AJHG, 51, A201-201, 1992
LOC,LIN,MAP "Smith M &: CCG, 49, (HGM9.5), 71-78, 1988
LOC,LIN,MAP "Smith M &: CCG, 46, (HGM9), 694-695, 1987

KEY

neu, derm

CLA

unknown, basic

LOC

09 q34.1-.2

MIM

MIM: 191100

Смотрите также:

  • TSC1 Ген