IDENTIFICATION OF THE LYSINURIC PROTEIN INTOLERANCE GENE

Pubblicazioni Scientifiche

• 2000 AMERICAN JOURNAL OF HUMAN GENETICS

  Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

• 2000 PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

  Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance

• 1999 NATURE GENETICS

  SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

• 2000 AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

  Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects

• 1998 EUROPEAN JOURNAL OF HUMAN GENETICS

  Genetic homogeneity of lysinuric protein intolerance

• 1999 PRENATAL DIAGNOSIS

  Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report

• 1999 GENOMICS

  SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family