Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities [2]

Nature Genetics

Volumn 23, Issue 3, 1999, Pages 264-266

  Igarashi, Takashi ^a   Inatomi, Jun ^b   Sekine, Takashi ^b   Cha, Seok Ho ^b   Kanai, Yoshikatsu ^b   Kunimi, Motoei ^c   Tsukamoto, Kazuhisa ^c   Satoh, Hiroaki ^c   Shimadzu, Mitsunobu ^d   Tozawa, Fumiko ^d   Mori, Tetsuo ^e   Shiobara, Masaaki ^e   Seki, George ^c   Endou, Hitoshi ^b  

^a UNIVERSITY OF TOKYO   (Japan)

^b KYORIN UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d LSI MEDIENCE CORPORATION   (Japan)

^e SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ADOLESCENT; ADULT; BLOOD GAS ANALYSIS; CASE REPORT; CHILD; CHROMOSOME MAP; CLINICAL FEATURE; CORNEA ENDOTHELIUM; DNA SEQUENCE; EYE MALFORMATION; FEMALE; GENE LOCATION; GENE MUTATION; HUMAN; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ACIDOSIS; LETTER; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ACIDOSIS, RENAL TUBULAR; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANION TRANSPORT PROTEINS; ANTIPORTERS; BLINDNESS; CARRIER PROTEINS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 4; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FEMALE; HOMOZYGOTE; HUMANS; KIDNEY; MALE; MEMBRANE PROTEINS; MUTATION; SODIUM-BICARBONATE SYMPORTERS;

EID: 0032720230     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/15440     Document Type: Letter

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