Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma

Journal of the American Society of Nephrology

Volumn 12, Issue 4, 2001, Pages 713-718

  Igarashi, T ^a   Inatomi, J ^a   Sekine, T ^a   Seki, G ^a   Shimadzu, M ^a   Tozawa, F ^a   Takeshima, Y ^a   Takumi, T ^a   Takahashi, T ^a   Yoshikawa, N ^a   Nakamura, H ^a   Endou, H ^a  

^a UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE; CARRIER PROTEIN; RESTRICTION ENDONUCLEASE;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; GLAUCOMA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ACIDOSIS; MENTAL RETARDATION MALFORMATION SYNDROME; NONSENSE MUTATION; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; SHORT STATURE; STOP CODON;

EID: 0035088571     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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