(modified last June 1, 2005)
PTT for point mutation detection in the DMD gene (DMD / BMD)
PTT for point mutation detection in Emery-Dreifuss Muscular Dystrophy (EMD)
PTT for point mutation detection in the APC-gene (FAP) - available on request
| Disease | Symbol (GenBank link) |
Gene (PTT link) |
Reference (MEDLINE link) |
| Aniridia | PAX6 | Axton | |
| Familial Adenomatous Polyposis | FAP | APC (available on request) |
Van Der Luijt, Powell, Rowan, Bhala, Laken, Kraus |
| Ataxia Telangiectasia | A-T | ATM | Fitzgerald |
| Becker Muscular dystrophy | BMD | DMD | Roest, Gardner |
| Breast Cancer | BRCA1 | BRCA1 | Hogervorst, Plummer, Lancaster, Friedman |
| BRCA2 | BRCA2 | Lancaster, Friedman, Ozcelik | |
| Choroideremia | CHM | Beaufrere | |
| Congenital muscular dystrophy | CMD | LAMA2 | Pegoraro |
| Cystic Fibrosis | CF | CFTR | Romey |
| Duchenne Muscular Dystrophy | DMD | DMD | Roest, Gardner |
| Emery-Dreifuss muscular dystrophy | EMD | EMD | De Koning Gans |
| Epidermolysis Bullosa with muscular dystrophy | EB-MD | PLEC1 | Dang |
| Fanconi anaemia | FAA | Lo Ten Foe | |
| Haemophilia A | factor VIII | Maugard | |
| Heriditary Desmoid Disease | HDD | APC | Eccles |
| Hereditary Non Polyposis Colon Cancer | HNPCC | MLH1 | Kohonen-Corish, Farrington |
| MSH2 | Kohonen-Corish , Farrington | ||
| MSH6 | |||
| PML1 | |||
| Hunter Syndrome | IDS | Hogervorst (1994) - data on request (mailto: ddunnen@lumc.nl) | |
| Neurofibromatosis (type 1) | NF1 | Heim | |
| Neurofibromatosis (type 2) | NF2 | MacCollin | |
| Paroxysmal Nocturnal Haemoglobinuria | PNH | PIG-A | Maugard |
| Polycystic Kidney Disease | PKD1 | Roelfsema, Peral | |
| PKD2 | |||
| - | - | PPEF | Van De Vosse |
| Retinitis Pigmentosa (X-linked) | RP2 | Mears | |
| Rubinstein-Taybi Syndrome | RTS | Petrij | |
| Tuberous Sclerosis | TSC1 | ||
| TSC2 | Van Bakel | ||
| Xeroderma Pigmentosum | XP-D | XPD | Kobayashi |
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