SEARCH FOR CANDIDATE GENES FOR THE EMERY DREYFUSS MUSCULAR DYSTROPHY AND THE X-LINKED MYOPATHY, IN XQ28

Pubblicazioni Scientifiche

• 1994 NATURE GENETICS

  IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY

• 1994 GENOMICS

  THE EXON-INTRON ORGANIZATION OF THE HUMAN X-LINKED GENE (FLN1) ENCODING ACTIN-BINDING PROTEIN-280

• 1993 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AME

  TRANSCRIPTIONAL ORGANIZATION OF A 450-KB REGION OF THE HUMAN X-CHROMOSOME IN XQ28

• 1995 HUMAN MOLECULAR GENETICS

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

• 1995 GENOMICS

  A COMPARATIVE TRANSCRIPTIONAL MAP OF A REGION OF 250 KB ON THE HUMAN AND MOUSE X-CHROMOSOME BETWEEN THE G6PD AND THE FLN1 GENES

• 1993 HUMAN MOLECULAR GENETICS

  MAPPING OF 2 GENES ENCODING ISOFORMS OF THE ACTIN-BINDING PROTEIN ABP-280, A DYSTROPHIN LIKE PROTEIN, TO XQ28 AND TO CHROMOSOME-7

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

  A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor

• 1994 GENOMICS

  COMPARATIVE MAPPING OF THE ACTIN-BINDING PROTEIN-280 GENES IN HUMAN AND MOUSE

• 1994 HUMAN MOLECULAR GENETICS

  ISOLATION OF NEW GENES IN DISTAL XQ28 - TRANSCRIPTIONAL MAP AND IDENTIFICATION OF A HUMAN HOMOLOG OF THE ARD1 N-ACETYL TRANSFERASE OF SACCHAROMYCES-CEREVISIAE