| 1 | ASPR, SLC25A38
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| Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
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| Fouquet C, Le Rouzic MA, Leblanc T, Fouyssac F, Leverger G, Hessissen L, Marlin S, Bourrat E, Fahd M, Raffoux E, Vannier JP, Jäkel N, Knoefler R, Triolo V, Pasquet M, Bayart S, Thuret I, Lutz P, Vermylen C, Touati M, Rose C, Matthes T, Isidor B, Kannengiesser C, Ducassou S.
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| Br J Haematol. Nov;187(4):530-542. doi: 10.1111/bjh.16100. Epub 2019 Jul 23 2019
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| 2 | ASPR, SLC25A38
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| Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.
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| Mehri M, Zarin M, Ardalani F, Najmabadi H, Azarkeivan A, Neishabury M.
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| Blood Cells Mol Dis. Jul;71:39-44. doi: 10.1016/j.bcmd.2018.02.002. Epub 2018 Feb 22 2018
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| 3 | ASPR, SF3B1, SLC25A38
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| Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.
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| Cazzola M, Malcovati L.
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| Hematology Am Soc Hematol Educ Program. ;2015:19-25. doi: 10.1182/asheducation-2015.1.19. 2015
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| 4 | ASPR, SLC25A38
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| Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
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| Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A.
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| Haematologica. Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10 2011
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| 5 | ASPR, SLC25A38
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| Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
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| Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME.
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| Nat Genet 41(6):651-3. Epub 2009 May 3.
2009
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| 6 | ASPR
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| Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
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| Jardine PE, Cotter PD, Johnson SA, Fitzsimons EJ, Tyfield L, Lunt PW, Bishop DF.
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| J Med Genet 31(3):213-8. Review.
1994
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