(Q73305789)
Statements
A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript (English)
Thongnoppakhun A
Rungroj N
Wilairat P
Vareesangthip K
Sirinavin C
Yenchitsomanus PT