A novel ATP6V0A2 frameshift mutation causing autosomal recessive cutis laxa with bleeding diathesis and defective wound healing

KARACAN I., DİZ KÜÇÜKKAYA R., TOLUN A., HANÇER V. S., TAHİR TURANLI E.

ESHG 2016, 21 - 24 May 2016

  • Publication Type: Conference Paper / Full Text
  • Istanbul Technical University Affiliated: Yes