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A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing by İlker Karacan, Reyhan Diz Küçükkaya, Fatma Nur Karakuş, Seyhun Solakoğlu, Aslıhan Tolun, Veysel Sabri Hancer, Eda Tahir Turanlı
Published 2019-02-01
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Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay by Myungjin Kim, Erin Sandford, Damian Gatica, Yu Qiu, Xu Liu, Yumei Zheng, Brenda A Schulman, Jishu Xu, Ian Semple, Seung-Hyun Ro, Boyoung Kim, R Nehir Mavioglu, Aslıhan Tolun, Andras Jipa, Szabolcs Takats, Manuela Karpati, Jun Z Li, Zuhal Yapici, Gabor Juhasz, Jun Hee Lee, Daniel J Klionsky, Margit Burmeister
Published 2016-01-01
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