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Academic Journal

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.

  • Authors : Bisceglia L; FG, IRCCS Casa Sollievo della Sofferenza, UO Genetica Medica, San Giovanni Rotondo, Italy. ; Fischetti L

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

  • Source: Human genetics [Hum Genet] 2010 Apr; Vol. 127 (4), pp. 488-9.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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Academic Journal

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.

  • Authors : Bisceglia L; FG, IRCCS Casa Sollievo della Sofferenza, UO Genetica Medica, San Giovanni Rotondo, Italy. ; Fischetti L

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

  • Source: Human genetics [Hum Genet] 2010 Apr; Vol. 127 (4), pp. 489.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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Academic Journal

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.

  • Authors : Bisceglia L; Foggia, Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. ; Fischetti L

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

  • Source: Human genetics [Hum Genet] 2010 Apr; Vol. 127 (4), pp. 472-3.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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Academic Journal

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.

  • Authors : Bisceglia L; Foggia, Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. ; Stanziale P

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

  • Source: Human genetics [Hum Genet] 2010 Apr; Vol. 127 (4), pp. 473.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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Academic Journal

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

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

  • Source: Human genetics [Hum Genet] 2009 Aug; Vol. 126 (2), pp. 335.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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Academic Journal

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

  • Authors : Eggermann T; Institut für Humangenetik, RWTH Aachen, Aachen, Germany.

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

  • Source: Human genetics [Hum Genet] 2009 Aug; Vol. 126 (2), pp. 330.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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Academic Journal

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

  • Authors : Eggermann T; Institut für Humangenetik, RWTH Aachen, Aachen, Germany.

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

  • Source: Human genetics [Hum Genet] 2009 Aug; Vol. 126 (2), pp. 329.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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Academic Journal

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.

  • Authors : Bisceglia L; Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy. ; Fischetti L

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

  • Source: Human genetics [Hum Genet] 2007 Dec; Vol. 122 (5), pp. 553.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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Academic Journal

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

  • Authors : Bisceglia L; Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy. ; Di Perna M

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

  • Source: Human genetics [Hum Genet] 2007 Sep; Vol. 122 (2), pp. 209.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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Academic Journal

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

  • Authors : Dedoussis G; Harokopio University, Department of Science Dietetics-Nutrition, El.Venizelou, 70, 17671, Athens, Greece. ; Louzou E

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

  • Source: Human genetics [Hum Genet] 2007 Sep; Vol. 122 (2), pp. 215.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203

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  • 1-10 of  38 results for ""Amino Acid Transport Systems, Neutral""