Konu "Whole exome sequencing" için WoS İndeksli Yayınlar Koleksiyonu listeleme
Toplam kayıt 2, listelenen: 1-2
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A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing
(GALENOS YAYINCILIK, 2019)Objective: Autosomal recessive cutis laxa type IIA (ARCL2A) is a rare congenital disorder characterized by loose arid elastic skin, growth and developmental delay, and skeletal anomalies. It is caused by biallelic mutations ... -
Whole exome sequencing reveals novel candidate gene variants for MODY
(Elsevier, 2020)Maturity-onset diabetes of the young (MODY) is a monogenic subtype of diabetes mellitus. Although 14 genes were associated to different subtypes of MODY, 30-40% of MODY patients have unidentified genetic mutations. in this ...