GENOMIC STRUCTURE, MUTATIONS SCREENING AND PHENOTYPE-GENOTYPE CORRELATION STUDIES OF THE GENE RESPONSIBLE FOR CYSTINURIA

Pubblicazioni Scientifiche

• 1995 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AME

  GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NOT TO TYPE-III CYSTINURIA

• 1995 HUMAN GENETICS

  ASSIGNMENT OF THE GENE RESPONSIBLE FOR CYSTINURIA (RBAT) AND OF MARKERS D2S119 AND D2S177 TO 2P16 BY FLUORESCENCE IN-SITU HYBRIDIZATION

• 1994 NATURE GENETICS

  CYSTINURIA CAUSED BY MUTATIONS IN RBAT, A GENE INVOLVED IN THE TRANSPORT OF CYSTINE

• 1995 AMERICAN JOURNAL OF HUMAN GENETICS

  MOLECULAR-GENETICS OF CYSTINURIA - IDENTIFICATION OF 4 NEW MUTATIONS AND 7 POLYMORPHISMS, AND EVIDENCE FOR GENETIC-HETEROGENEITY