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


Karacan I., Diz Küçükkaya R., Tolun A., HANÇER V. S. , TAHİR TURANLI E.

ESHG 2016, 21 - 24 May 2016

  • Publication Type: Conference Paper / Full Text