A MOLECULAR APPROACH TO INHERITED KIDNEY DISORDERS

[1] ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS - DELETIONS IN THE 5' END OF THE COL4A5 COLLAGEN GENE [J]. KIDNEY INTERNATIONAL, 1992, 42 (05) : 1178 - 1183

[2] A GENE FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS (RECESSIVE MEDULLARY CYSTIC KIDNEY-DISEASE) MAPS TO CHROMOSOME-2P [J]. NATURE GENETICS, 1993, 3 (04) : 342 - 345

[3] ATKIN CL, 1988, AM J HUM GENET, V42, P249

[4] THE LOWE OCULOCEREBRORENAL SYNDROME GENE ENCODES A PROTEIN HIGHLY HOMOLOGOUS TO INOSITOL POLYPHOSPHATE-5-PHOSPHATASE [J]. NATURE, 1992, 358 (6383) : 239 - 242

[5] AVNER E D, 1991, Journal of the American Society of Nephrology, V2, P250

[6] IDENTIFICATION OF MUTATIONS IN THE COL4A5 COLLAGEN GENE IN ALPORT SYNDROME [J]. SCIENCE, 1990, 248 (4960) : 1224 - 1227

[7] HEREDITARY RENAL AMYLOIDOSIS ASSOCIATED WITH A MUTANT FIBRINOGEN ALPHA-CHAIN [J]. NATURE GENETICS, 1993, 3 (03) : 252 - 255

[8] FABRY DISEASE - 6 GENE REARRANGEMENTS AND AN EXONIC POINT MUTATION IN THE ALPHA-GALACTOSIDASE GENE [J]. JOURNAL OF CLINICAL INVESTIGATION, 1989, 83 (04) : 1390 - 1399

[9] Bichet D G, 1991, Adv Nephrol Necker Hosp, V20, P175

[10] MOLECULAR-CLONING OF THE RECEPTOR FOR HUMAN ANTIDIURETIC-HORMONE [J]. NATURE, 1992, 357 (6376) : 333 - 335

[1] ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS - DELETIONS IN THE 5' END OF THE COL4A5 COLLAGEN GENE [J]. KIDNEY INTERNATIONAL, 1992, 42 (05) : 1178 - 1183

[2] A GENE FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS (RECESSIVE MEDULLARY CYSTIC KIDNEY-DISEASE) MAPS TO CHROMOSOME-2P [J]. NATURE GENETICS, 1993, 3 (04) : 342 - 345

[3] ATKIN CL, 1988, AM J HUM GENET, V42, P249

[4] THE LOWE OCULOCEREBRORENAL SYNDROME GENE ENCODES A PROTEIN HIGHLY HOMOLOGOUS TO INOSITOL POLYPHOSPHATE-5-PHOSPHATASE [J]. NATURE, 1992, 358 (6383) : 239 - 242

[5] AVNER E D, 1991, Journal of the American Society of Nephrology, V2, P250

[6] IDENTIFICATION OF MUTATIONS IN THE COL4A5 COLLAGEN GENE IN ALPORT SYNDROME [J]. SCIENCE, 1990, 248 (4960) : 1224 - 1227

[7] HEREDITARY RENAL AMYLOIDOSIS ASSOCIATED WITH A MUTANT FIBRINOGEN ALPHA-CHAIN [J]. NATURE GENETICS, 1993, 3 (03) : 252 - 255

[8] FABRY DISEASE - 6 GENE REARRANGEMENTS AND AN EXONIC POINT MUTATION IN THE ALPHA-GALACTOSIDASE GENE [J]. JOURNAL OF CLINICAL INVESTIGATION, 1989, 83 (04) : 1390 - 1399

[9] Bichet D G, 1991, Adv Nephrol Necker Hosp, V20, P175

[10] MOLECULAR-CLONING OF THE RECEPTOR FOR HUMAN ANTIDIURETIC-HORMONE [J]. NATURE, 1992, 357 (6376) : 333 - 335