Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome
Meng‐Che Tsai(National Cheng Kung University Hospital), Peng‐Chieh Chen(Brigham and Women's Hospital), Tsunglin Liu(National Cheng Kung University), Yuan‐Yow Chiou(National Cheng Kung University Hospital), Hui-Wen Yu(National Cheng Kung University Hospital), Yen-Yin Chou(National Cheng Kung University Hospital)
Cited by 21
Related Papers
Rapamycin attenuates unilateral ureteral obstruction-induced renal fibrosis
|Kidney International|2006|165
Acute pyelonephritis and sequelae of renal scar in pediatric first febrile urinary tract infection
|Pediatric Nephrology|2003|150
Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation
|Journal of Clinical Investigation|2010|133
Defining a Link with Autosomal-Dominant Polycystic Kidney Disease in Mice with Congenitally Low Expression of Pkd1
|American Journal Of Pathology|2006|131