Boven, L.G.

mutation patient family carrier phenotype p.s 13f index patients kiaa 1279 disease heart index p.n 342d netherland protein desmin founder marker number cardiomyopathy myopathy dutch block right atrioventricular block table region genet p.n 342d carriers conduction analysis department syndrome university abnormality cause cardiological moroccan family haplotype analysis conduction disease obligate haplotype disorder p.s 13f carriers hirschsprung disease pacemaker expression hirschsprung groningen screening accession information distribution symptom genetic atrioventricular des mutations heart failure sequence enlargement symbol centre patient vi -10 failure p.s 13f mutation flexor collapse family cascade screening domain study 2 b domain des mutation carriers score death feature dutch families genomic dna article homozygosity cardiomyopathic phenotype repolarisation