- Moore, Anthony;
- Borman, AD;
- Pearce, LR;
- Mackay, DS;
- Nagel-Wolfrum, K;
- Davidson, AE;
- Henderson, R;
- Garg, S;
- Waseem, NH;
- Webster, AR;
- Plagnol, V
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated us
