(Q51968296)
Statements
1 reference
Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma. (English)
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Igarashi T
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Inatomi J
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Sekine T
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Seki G
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Shimadzu M
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Tozawa F
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Takeshima Y
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Takumi T
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Takahashi T
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Yoshikawa N
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Nakamura H
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Endou H
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1 April 2001
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12
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4
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713-718
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Identifiers
1 reference