Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation
Laszlo Furu Jan Senderek; Ali Gharavi; Xiaoying Hou; Ernie L Esquivel; Yasuyuki Nagasawa; Ellis Avner; Gregory Germino; Lisa Guay-Woodford; Stefan Somlo; Reinhard Büttner; Klaus Zerres; Luiz Fernando Onuchic; Accredited Sponsor: The American Society of Nephrology (1. 2003 San Diego)
Journal of the American Society of Nephrology Philadelphia, 2003 v. 14
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
Luiz F. Onuchic Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie Esquivel; Raoul Zeltner; Sabine Rudnik Schöneborn; Michael Mrug; William Sweeney; Ellis D Avner Zerres. Klaus; Lisa M. Guay Woodford; Stefan Somlo; Gregory G Germino
American Journal of Human Genetics Baltimore v. 70, p. 1305-1317, 2002
Baltimore 2002
Localização:
FM - Fac. Medicina
(BCSEP 2002 239 )(Acessar)
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
Luiz F. Onuchic Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie Esquivel; Raoul Zeltner; Sabine Rudnik Schöneborn; Michael Mrug; William Sweeney; Ellis D Avner Zerres. Klaus; Lisa M. Guay Woodford; Stefan Somlo; Gregory G Germino
American Journal of Human Genetics Baltimore v. 70, p. 1305-1317, 2002
Baltimore 2002
Localização:
FM - Fac. Medicina
(BCSEP 2002 239 )(Acessar)
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation
Laszlo Furu Jan Senderek; Ali Gharavi; Xiaoying Hou; Ernie L Esquivel; Yasuyuki Nagasawa; Ellis Avner; Gregory Germino; Lisa Guay-Woodford; Stefan Somlo; Reinhard Büttner; Klaus Zerres; Luiz Fernando Onuchic; Accredited Sponsor: The American Society of Nephrology (1. 2003 San Diego)
Journal of the American Society of Nephrology Philadelphia, 2003 v. 14