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Publications by Joaquim Dochir
Sideroblastic Anemia: Molecular Analysis of the ALAS2 Gene in a Series of 29 Probands and Functional Studies of 10 Missense Mutations
Human Mutation
Genetics
Related publications
X-Linked Sideroblastic Anemia Due to ALAS2 Intron 1 Enhancer Element GATA-binding Site Mutations
American Journal of Hematology
Hematology
Identification and Functional Analysis of Missense Mutations in the Lecithin Cholesterol Acyltransferase Gene in a Chilean Patient With Hypoalphalipoproteinemia
Lipids in Health and Disease
Biochemistry
Endocrinology
Clinical Biochemistry
Metabolism
Diabetes
Functional Consequences of PRODH Missense Mutations
American Journal of Human Genetics
Genetics
Congenital Sideroblastic Anemia in a Female
American Journal of Hematology
Hematology
Mitochondrial Myopathy and Sideroblastic Anemia
Development of Functional Assays for BRCA1 Missense Mutations
Breast Cancer Research
Cancer Research
Oncology
X-Linked Sideroblastic Anemia
Functional Characterization of Two Missense Mutations in Pex5p—C11S and N526K
Biochimica et Biophysica Acta - Molecular Cell Research
Cell Biology
Molecular Biology
Severe Isoniazid Related Sideroblastic Anemia
Hematology Reports
Hematology
