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 Mayıs 2016

  • Yayın Türü: Bildiri / Tam Metin Bildiri