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Nephrogenic diabetes insipidus
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Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus
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Colocalization of the gene for nephrogenic diabetes insipidus and the vasopressin type 2 receptor gene in the Xq28 region
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Van den Ouweland AM, Knoop MT, Knoers NVAM, Markslag PWB, Rocchi M, Warren ST, Ropers HH, Fahrenholz F, Monnens LAH, van Oost B 1992 Colocalization of the gene for nephrogenic diabetes insipidus and the vasopressin type 2 receptor gene in the Xq28 region. Genomics 13:1350-1352
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Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine
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Mutations in the vasopresin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus
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Van den Ouweland AM, Dreesen JCFM, Verdjik M, Knoers NVAM, Monnens LAH, Rocchi M, Van Oost BA 1992 Mutations in the vasopresin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nature Genetics 2:99-102
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X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis
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Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus
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Nature and recurrence of AVPR2 mutations in X-linked Nephrogenic Diabetes Insipidus
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Bichet DG, Birnbaumer M, Lonergan M, Arthus M, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S, Fish A, Whitley CB, Jaeger P, Gertner J, New M, Dibona FJ, Kaplan BS, Robertson GL, Hendy GN, Fujiwara TM, Morgan K 1994 Nature and recurrence of AVPR2 mutations in X-linked Nephrogenic Diabetes Insipidus. Am J Hum Genet 55:278-286
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more..
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Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus
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Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR 1994 Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am J Human Genet 55:266-277
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Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus
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Wenkert D, Merendino JJ, Shenker A, Thambi N, Robertson GL, Moses AM, Spiegel AM 1994 Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. Human Molec Genet 3:1429-1430
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84995857191
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Novel mutations in the V2 vasopressin receptor gene in two pedigrees with Congenital Nephrogenic Diabetes Insipidus
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Yuasa H, Ito M, Oiso Y, Kurokawa M, Watanabe T, Oda Y, Ishizuka T, Tani N, Ito S, Shibata A, Saito H 1994 Novel mutations in the V2 vasopressin receptor gene in two pedigrees with Congenital Nephrogenic Diabetes Insipidus. J Clin Endocr Metab 79:361-365
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Three Novel AVPR2 mutations in three Japanese families with X-linked Nephrogenic Diabetes Insipidus
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Tajima T, Nakae J, Takekoshi Y, Takahashi Y, Yuri K, Nagashima T, Fujieda K 1994 Three Novel AVPR2 mutations in three Japanese families with X-linked Nephrogenic Diabetes Insipidus. Pediatr Research 39:522-526
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Tajima, T.1
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Fujieda, K.7
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