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- [35] X-linked Sideroblastic Anemia Due to Carboxyl-terminal ALAS2 Mutations That Cause Loss of Binding to the β-Subunit of Succinyl-CoA Synthetase (SUCLA2)JOURNAL OF BIOLOGICAL CHEMISTRY, 2012, 287 (34) : 28943 - 28955Bishop, David F.Tchaikovskii, VassiliHoffbrand, A. VictorFraser, Marie E.Margolis, Steven
- [36] X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2)J. Biol. Chem., 1600, 34 (28943-28955):Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, United States不详不详
- [37] Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia-a family studyFRONTIERS IN MEDICINE, 2025, 11Al Kindi, SalamAl-Mamari, AltafAl-Zadjali, ShoaibAl-Rawahi, MohamedAl Madhani, AliPathare, Anil V.
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- [39] C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overloadAMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (03) : 408 - 414Whatley, Sharon D.Ducamp, SarahGouya, LaurentGrandchamp, BernardBeaumont, CaroleBadminton, Michael N.Elder, George H.Holme, AlexanderAnstey, Alexander V.Parker, MichelleCorrigall, Anne V.Meissner, Peter N.Hift, Richard J.Marsden, Joanne T.Ma, YunMieli-Vergani, GiorginaDeybach, Jean-CharlesPuy, Herve
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