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Academic Journal

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

  • Authors : Shigeta Y; Department of Pharmacology and Toxicology, Kyorin University School of Medicine, Shinkawa, Mitaka, Tokyo, Japan.; Kanai Y

Subjects: Mutation, Missense*; Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*genetics ; Cystinuria/Cystinuria/Cystinuria/*genetics

  • Source: Kidney international [Kidney Int] 2006 Apr; Vol. 69 (7), pp. 1198-206.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print)

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Academic Journal

Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.

Subjects: Amino Acid Transport Systems, Basic* ; Gene Deletion* ; Gene Rearrangement*

  • Source: Kidney international [Kidney Int] 2003 Nov; Vol. 64 (5), pp. 1564-72.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print)

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Academic Journal

SLC7A9 mutations in all three cystinuria subtypes.

  • Authors : Leclerc D; Department of Human Genetics, McGill University-Montreal Children's Hospital, Montreal, Quebec,Canada.; Boutros M

Subjects: Amino Acid Transport Systems, Basic* ; Mutation, Missense*; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics

  • Source: Kidney international [Kidney Int] 2002 Nov; Vol. 62 (5), pp. 1550-9.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print)

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Academic Journal

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

Subjects: Amino Acid Transport Systems, Basic* ; Frameshift Mutation* ; Mutation, Missense*

  • Source: Kidney international [Kidney Int] 2002 Oct; Vol. 62 (4), pp. 1136-42.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print)

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Academic Journal

Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.

  • Authors : Egoshi KI; Department of Urology, Chiba University School of Medicine, Chiba, Japan.; Akakura K

Subjects: Amino Acid Transport Systems, Basic* ; Mutation*; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics

  • Source: Kidney international [Kidney Int] 2000 Jan; Vol. 57 (1), pp. 25-32.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print)

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Editorial & Opinion

Cystinuria subtype and nephrolithiasis.

Subjects: Amino Acid Transport Systems, Basic*; Cystinuria/Cystinuria/Cystinuria/*classification ; Cystinuria/Cystinuria/Cystinuria/*complications

  • Source: Kidney international [Kidney Int] 1999 Jul; Vol. 56 (1), pp. 353-4.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print)

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Academic Journal

Urinary metabolites along with common and rare genetic variations are associated with incident chronic kidney disease.

Subjects: Polymorphism, Single Nucleotide*; Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/Amino Acid Transport Systems, Basic/*genetics ; Amino Acids/Amino Acids/Amino Acids/*urine

  • Source: Kidney international [Kidney Int] 2017 Jun; Vol. 91 (6), pp. 1426-1435. Date of Electronic Publication: 2017 Mar 14.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype.

  • Authors : Saadi I; Department of Pediatrics, McGill University, Montreal, Canada.; Chen XZ

Subjects: Amino Acid Transport Systems, Basic* ; Heterozygote*; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics

  • Source: Kidney international [Kidney Int] 1998 Jul; Vol. 54 (1), pp. 48-55.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print)

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Academic Journal

Cystinuria subtype and the risk of nephrolithiasis.

  • Authors : Goodyer P; Department of Pediatrics, McGill University, Montreal Children's Hospital, Quebec, Canada. ; Saadi I

Subjects: Amino Acid Transport Systems, Basic*; Cystinuria/Cystinuria/Cystinuria/*classification ; Cystinuria/Cystinuria/Cystinuria/*epidemiology

  • Source: Kidney international [Kidney Int] 1998 Jul; Vol. 54 (1), pp. 56-61.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print)

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Academic Journal

Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients.

  • Authors : Horsford J; Department of Pediatrics, McGill University-Montreal Children's Hospital, Quebec, Canada.; Saadi I

Subjects: Amino Acid Transport Systems, Basic* ; Mutation*; Cystinuria/Cystinuria/Cystinuria/*genetics

  • Source: Kidney international [Kidney Int] 1996 May; Vol. 49 (5), pp. 1401-6.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print)

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  • 1-10 of  13 results for ""Amino Acid Transport Systems, Basic""