A Novel <i>ATP6V0A2</i> Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing


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Karacan İ. , Diz K., KARAKUŞ F., SOLAKOĞLU S., TOLUN A., HANÇER V., ...More

Turkish journal of haematology : official journal of Turkish Society of Haematology, vol.36, pp.29-36, 2019 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36
  • Publication Date: 2019
  • Doi Number: 10.4274/tjh.galenos.2018.2018.0325
  • Title of Journal : Turkish journal of haematology : official journal of Turkish Society of Haematology
  • Page Numbers: pp.29-36
  • Keywords: ATP6V0A2, Cutis laxa, Wound healing, Bleeding diathesis, Whole exome sequencing, MULTIMERIZATION, GLYCOSYLATION