EMERY-DREYFUSS MUSCULAR DYSTROPHY: ISOLATION AND CHARACTERIZATION OF THE GENE BY USING THE YEAST ARTIFICIAL CHROMOSOMES

Pubblicazioni Scientifiche

• 1995 HUMAN MOLECULAR GENETICS

  IDENTIFICATION OF NEW MUTATIONS IN THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY GENE AND EVIDENCE FOR GENETIC-HETEROGENEITY OF THE DISEASE

• 1995 HUMAN MOLECULAR GENETICS

  SSCP DETECTION OF NOVEL MUTATIONS IN PATIENTS WITH EMERY-DREIFUSS MUSCULAR-DYSTROPHY - DEFINITION OF A SMALL C-TERMINAL REGION REQUIRED FOR EMERIN FUNCTION

• 1994 Nucleic acids research

  PCR-BASED IMMORTALIZATION AND SCREENING OF HIERARCHICAL POOLS OF CDNAS

• 1994 BIOESSAYS

  FUNCTIONAL MAPPING OF THE HUMAN GENOME BY CDNA LOCALIZATION VERSUS SEQUENCING

• 1994 MAMMALIAN GENOME

  SEQUENCE-TAGGED SITES (STSS) FROM YAC INSERT-ENDS AND X-SPECIFIC FLOW-SORTED CHROMOSOMES

• 1996 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AME

  A compositional map of human chromosome band Xq28

• 1995 GENOMICS

  HUMAN PROTEIN-KINASE-C LOTA GENE (PRKCI) IS CLOSELY LINKED TO THE BTK GENE IN XQ21.3

• 1996 HUMAN MOLECULAR GENETICS

  Long-range sequence analysis in Xq28: Thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and GGPD loci