The mutation spectrum of DHCR7 gene and two novel mutations


IŞIK E. , ONAY H. , AKGÜN B., ATİK T. , Aykut A. , DURMAZ A. , ...More

ESHG, KOPENHAG, Denmark, 27 - 30 May 2017 identifier identifier identifier

  • Publication Type: Conference Paper / Summary Text
  • Doi Number: 10.1006/mcpr.2002.0426
  • City: KOPENHAG
  • Country: Denmark
  • Keywords: Smith-Lemli-Opitz syndrome, DHCR7 gene, 7-dehydrocholesterol