Leiden Muscular Dystrophy pages

Protein Truncation Test (PTT)

(modified last June 1, 2005)



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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