Autosomal recessive polycystic kidney disease (ARPKD): New insights from the identification of the ARPKD gene, PKHD1

Pediatric Research

Volumn 52, Issue 6, 2002, Pages 830-831

  Guay Woodford, Lisa M ^a  

^a and Clinical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE RNA SPLICING; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; GENE IDENTIFICATION; GENE MUTATION; KIDNEY POLYCYSTIC DISEASE; MOLECULAR CLONING; NOTE; PRIORITY JOURNAL; PROTEIN FAMILY; ANIMAL; CHILD; GENETICS; HUMAN; MUTATION; RAT;

CELL SURFACE RECEPTOR; PKHD1 PROTEIN, HUMAN;

ALTERNATIVE SPLICING; ANIMALS; CHILD; HUMANS; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; RATS; RECEPTORS, CELL SURFACE;

EID: 85047682163     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200212000-00002     Document Type: Note

References (3)

1. Guay-Woodford L, Bernstein J. Other cystic kidney diseases 1999 In: Johnson R, Feehally J (eds) Comprehensive Clinical Nephrology. Mosby International, London, pp 50.1-50.12.
2. Ward C, Hogan M, Rossetti S, Walker D, Sneddon T, Wang X Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30:259-269
3. Onuchic L, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schoneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple IPT domains and PbH1 repeats. Am J Hum Genet 70:1305-1317.