Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

This publication has 24 references indexed in Scilit:

• SLC7A8, a Gene Mapping within the Lysinuric Protein Intolerance Critical Region, Encodes a New Member of the Glycoprotein-Associated Amino Acid Transporter Family
  Genomics, 1999
• Rhmod Syndrome: A Family Study of the Translation-Initiator Mutation in the Rh50 Glycoprotein Gene
  American Journal of Human Genetics, 1999
• Identification and Characterization of a Membrane Protein (y+L Amino Acid Transporter-1) That Associates with 4F2hc to Encode the Amino Acid Transport Activity y+L
  Published by Elsevier ,1998
• Genetic homogeneity of lysinuric protein intolerance
  European Journal of Human Genetics, 1998
• Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
  Journal of Medical Genetics, 1996
• Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course
  The Journal of Pediatrics, 1995
• Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance
  European Journal of Pediatrics, 1993
• A difficult diagnosis of lysinuric protein intolerance: association with glucose‐6‐phosphate dehydrogenase deficiency
  Journal of Inherited Metabolic Disease, 1991
• The Structure and Insertion of Integral Proteins in Membranes
  Annual Review of Cell Biology, 1990
• At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells
  Journal of Molecular Biology, 1987