메뉴 건너뛰기




Volumn 37, Issue 3, 2010, Pages 473-478

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype

Author keywords

AE1; Hypokalemia; Inherited; Nephrocalcinosis; Renal tubular acidosis

Indexed keywords

BICARBONATE; BICARBONATE CHLORIDE EXCHANGER AE1; CARRIER PROTEIN; CITRATE SODIUM; CITRIC ACID; CREATININE; GENE PRODUCT; GENOMIC DNA; POTASSIUM; PROTEIN SLC4A1; UNCLASSIFIED DRUG;

EID: 77952092692     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-010-9340-6     Document Type: Article
Times cited : (23)

References (29)
  • 12
    • 0036090376 scopus 로고    scopus 로고
    • Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells
    • DOI 10.1182/blood.V99.1.342
    • AM Toye LJ Bruce RJ Unwin O Wrong MJ Tanner 2002 Blood 99 342 347 10.1182/blood.V99.1.342 1:CAS:528:DC%2BD38XivF2nsw%3D%3D 11756190 (Pubitemid 34533002)
    • (2002) Blood , vol.99 , Issue.1 , pp. 342-347
    • Sulis, M.L.1    Van De Ven, C.2    Henderson, T.3    Anderson, L.4    Cairo, M.S.5
  • 13
    • 0346220251 scopus 로고    scopus 로고
    • A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis
    • DOI 10.1542/peds.112.6.1361
    • L Cheidde TC Vieira PR Lima ST Saad IP Heilberg 2003 Pediatrics 112 1361 1367 10.1542/peds.112.6.1361 14654610 (Pubitemid 37523420)
    • (2003) Pediatrics , vol.112 , Issue.6 , pp. 1361-1367
    • Cheidde, L.1    Vieira, T.C.2    Lima, P.R.M.3    Saad, S.T.O.4    Heilberg, I.P.5
  • 18
    • 0036070281 scopus 로고    scopus 로고
    • Inherited distal renal tubular acidosis
    • DOI 10.1097/01.ASN.0000023433.08833.88
    • FE Karet 2002 J. Am. Soc. Nephrol. 13 2178 2184 10.1097/01.ASN. 0000023433.08833.88 1:CAS:528:DC%2BD38Xmt1Ogtrw%3D 12138152 (Pubitemid 34790797)
    • (2002) Journal of the American Society of Nephrology , vol.13 , Issue.8 , pp. 2178-2184
    • Karet, F.E.1
  • 19
    • 0023414753 scopus 로고
    • 10.1016/0888-7543(87)90107-8 1:CAS:528:DyaL1cXltVemsA%3D%3D 3478298
    • LC Showe M Ballantine K Huebner 1987 Genomics 1 71 76 10.1016/0888-7543(87)90107-8 1:CAS:528:DyaL1cXltVemsA%3D%3D 3478298
    • (1987) Genomics , vol.1 , pp. 71-76
    • Showe, L.C.1    Ballantine, M.2    Huebner, K.3
  • 21
    • 0031466796 scopus 로고    scopus 로고
    • 10.3109/09687689709048178 1:CAS:528:DyaK1cXpsVejsA%3D%3D 9491367
    • MJA Tanner 1997 Mol. Membr. Biol. 14 155 165 10.3109/09687689709048178 1:CAS:528:DyaK1cXpsVejsA%3D%3D 9491367
    • (1997) Mol. Membr. Biol. , vol.14 , pp. 155-165
    • Tanner, M.J.A.1
  • 22
  • 23
    • 0034625056 scopus 로고    scopus 로고
    • - anion exchanger AE1
    • DOI 10.1021/bi992564p
    • JW Vince RA Reithmeier 2000 Biochemistry 39 5527 5533 10.1021/bi992564p 1:CAS:528:DC%2BD3cXitlKgsLk%3D 10820026 (Pubitemid 30257095)
    • (2000) Biochemistry , vol.39 , Issue.18 , pp. 5527-5533
    • Vince, J.W.1    Reithmeier, R.A.F.2
  • 29
    • 0031748106 scopus 로고    scopus 로고
    • 1:CAS:528:DyaK1cXktlCnu70%3D 9644634
    • GA Tanner 1998 J. Am. Soc. Nephrol. 9 1242 1248 1:CAS:528: DyaK1cXktlCnu70%3D 9644634
    • (1998) J. Am. Soc. Nephrol. , vol.9 , pp. 1242-1248
    • Tanner, G.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.