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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2015, Volume 10, Issue Suppl 2, p. O5
Journal Article
American Journal of Cardiology, The, ISSN 0002-9149, 2009, Volume 104, Issue 11, pp. 1511 - 1515
Journal Article
Annals of Neurology, ISSN 0364-5134, 07/2019, Volume 86, Issue 1, pp. 55 - 67
Objective Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve... 
RECESSIVE HEREDITARY MOTOR | GENE | PHOSPHATASE-ACTIVITY | MISSENSE MUTATION | FRAMESHIFT MUTATION | SBF2 MUTATION | SENSORY NEUROPATHY | IDENTIFICATION | NEUROSCIENCES | ONSET | CLINICAL NEUROLOGY | PSEUDOPHOSPHATASE | Glaucoma | Medical research | Conduction | Phenotypes | Myelin | Muscles | Heredity | Neuropathy | Regression analysis | Patients | Proteins | Nerve conduction | Wheelchairs | Charcot-Marie-Tooth disease | Mutation | Age
Journal Article
Journal Article
Immunity, ISSN 1074-7613, 05/2019, Volume 50, Issue 5, pp. 1218 - 1231.e5
Journal Article
Journal Article
Revue Francophone des Laboratoires, ISSN 1773-035X, 04/2016, Volume 2016, Issue 481, pp. 67 - 75
Les thalassémies sont des hémoglobinopathies de transmission autosomique récessive caractérisées par des anémies microcytaires et hypochromes de sévérité... 
hémoglobine | Alpha-thalassémies | alpha-thalassemias | hemoglobin | beta-thalassemias | bêta-thalassémies
Journal Article
Revue Francophone des Laboratoires, ISSN 1773-035X, 04/2016, Volume 2016, Issue 481, p. 67
Les thalassemies sont des hemoglobinopathies de transmission autosomique recessive caracterisees par des anemies microcytaires et hypochromes de severite... 
Journal Article
Revue Francophone des Laboratoires, ISSN 1773-035X, 04/2016, Volume 2016, Issue 481, p. 67
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/S1773-035X(16)30130-7 
Journal Article
Revue Francophone des Laboratoires, ISSN 1773-035X, 04/2016, Volume 2016, Issue 481, pp. 67 - 75
Thalassemia are hemoglobinopathies with recessive autosomal inheritance characterized by microcytic and hypochromic anemia of variable severity. Thalassemia... 
beta-thalassemias | alpha-thalassemias | hemoglobin
Journal Article
Brain, ISSN 0006-8950, 10/2009, Volume 132, Issue 10, pp. 2699 - 2711
Journal Article
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 2010, Volume 45, Issue 2, pp. 124 - 127
The HbF level is a quantitative trait influenced by many loci inside or outside the β-globin gene cluster. The aim of this study was to analyze in 57... 
HBS1L-MYB | Thalassemia intermedia | XmnI polymorphism | BCL11A | Fetal hemoglobin | Life Sciences | Other
Journal Article