SCOPUS 정보 검색 플랫폼

Volumn 38, Issue 9, 2001, Pages 615-616

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population [2]

(4) Rupar, C A a Matsell, D a Surry, S a Siu, V a

a Ministry of Children and Youth Services Child and Parent Resource Institute (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MERCAPTAMINE;

AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 17P; CHROMOSOME DELETION; CYSTINOSIS; EXON; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HUMAN; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LETTER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; UNITED KINGDOM;

BASE SEQUENCE; CHRISTIANITY; CYSTINOSIS; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; EXONS; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GLYCOPROTEINS; HOMOZYGOTE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MUTATION, MISSENSE; ONTARIO; SEQUENCE DELETION;

EID: 0034853085 PISSN: 00222593 EISSN: None Source Type: Journal
DOI: None Document Type: Letter

Times cited : (20)

References (9)

1
- 0000164289
- Lysosomal transport disorders: Cystinosis and sialic acid storage disorders
- Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw Hill
- (1995) The metabolic and molecular bases of inherited diseases. 7th ed. , pp. 3763-3797
- Gahl, W.A.¹ Schneider, J.A.² Aula, P.³

2
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- Linkage of the gene for cystinosis to markers on the short arm of chromosome 17
- (1995) Nat Genet , vol.10 , pp. 246-248

3
- 0031945551
- A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
- (1998) Nat Genet , vol.18 , pp. 319-324
- Town, M.¹ Jean, G.² Cherqui, S.³ Attard, M.⁴ Forestier, L.⁵ Whitmore, S.A.⁶ Callen, D.F.⁷ Gribouval, O.⁸ Broyer, M.⁹ Bates, G.P.¹⁰ Van't Hoff, W.¹¹ Antignac, C.¹²

4
- 0032798748
- Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)
- (1998) Mol Genet Metab , vol.66 , pp. 111-116
- Anikster, Y.¹ Lucero, C.² Touchman, J.³ Huizing, M.⁴ McDowell, G.⁵ Shotelersuk, V.⁶ Green, E.D.⁷ Gahl, W.A.⁸

5
- 17344382077
- The genomic region encompassing the nephropathic cystinosis gene (CTNS): Complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion
- (2000) Genome Res , vol.10 , pp. 165-173
- Touchman, J.W.¹ McDowell, G.² Shotelersuk, V.³ Bouffard, G.G.⁴ Beckstrom-Sternberg, S.M.⁵ Anikster, Y.⁶ Dietrich, N.L.⁷ Maduro Gahl, W.A.⁸ Green, E.D.⁹

6
- 0032231835
- CTNS mutations in an American-based population of cystinosis patients
- (1998) Am J Hum Genet , vol.63 , pp. 1352-1362
- Shotelersuk, V.¹ Larson, D.² Anikster, Y.³ McDowell, G.⁴ Lemons, R.⁵ Bernardini, I.⁶ Guo, J.⁷ Thoene, J.⁸ Gahl, W.A.⁹

7
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- Improved renal function in children with cystinosis treated with cysteamine
- (1993) N Engl J Med , vol.328 , pp. 1157-1162
- Markello, T.C.¹ Bernardini, I.M.² Gahl, W.A.³

8
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- Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis
- (1995) J Clin Endocrinol Metab , vol.80 , pp. 3257-3261
- Kimonis, V.E.¹ Troendle, J.² Rose, S.R.³ Yang, M.L.⁴ Markello, T.C.⁵ Gahl, W.A.⁶

9
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- Parenchymal organ depletion with long-term cysteamine therapy
- (1992) Biochem Med Metab Biol , vol.48 , pp. 275-285
- Gahl, W.A.¹ Charnas, L.² Markello, T.C.³ Bernardini, I.⁴ Ishak, K.G.⁵ Dalakas, M.C.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.