ABERRANT SPLICING DUE TO AN INTRONIC POINT MUTATION IN A LARIAT BRANCHPOINT SEQUENCE IN COL5A1 CAUSES EHLERS-DANLOS-SYNDROME TYPE-II IN 2 BRITISH FAMILIES
Np. Burrows et al., ABERRANT SPLICING DUE TO AN INTRONIC POINT MUTATION IN A LARIAT BRANCHPOINT SEQUENCE IN COL5A1 CAUSES EHLERS-DANLOS-SYNDROME TYPE-II IN 2 BRITISH FAMILIES, American journal of human genetics, 61(4), 1997, pp. 1916-1916