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Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 6, pp. 1286 - 1294
Galactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir pathway... 
galactose mutarotase | Leloir pathway | galactose | GALM | genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 173 - 180
Journal Article
Japanese Journal of Thrombosis and Hemostasis, ISSN 0915-7441, 2017, Volume 28, Issue 1, pp. 16 - 23
Journal Article
Journal Article
Journal Article
Cancer Science, ISSN 1347-9032, 06/2017, Volume 108, Issue 6, pp. 1263 - 1270
Journal Article
Cell Death & Differentiation, ISSN 1350-9047, 07/2019
Leucine zipper-like transcriptional regulator 1 (LZTR1) encodes a member of the BTB-Kelch superfamily, which interacts with the Cullin3 (CUL3)-based E3... 
Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2017, Volume 173, Issue 9, pp. 2346 - 2352
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 848 - 854
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is an inherited bone marrow failure syndrome, characterized by thrombocytopenia and... 
POINT MUTATIONS | MYELOID-TRANSFORMING GENE | ZINC FINGERS | CONGENITAL THROMBOCYTOPENIA | PROTEIN | HOXA11 MUTATION | CELL SELF-RENEWAL | GENETICS & HEREDITY | INTEGRATION SITE 1 | EXPRESSION | BONE-MARROW FAILURE | Synostosis - metabolism | Transcription Factor AP-1 - genetics | Humans | Child, Preschool | Molecular Sequence Data | Ulna - abnormalities | Male | Mutation, Missense | Synostosis - genetics | Transcription Factor AP-1 - metabolism | Exome | Thrombocytopenia - genetics | Proto-Oncogenes - genetics | Base Sequence | Bone Marrow - metabolism | Female | Transcription, Genetic | Radius - metabolism | Child | Protein Structure, Tertiary | Amino Acid Sequence | Signal Transduction | Gene Expression Regulation | Thrombocytopenia - congenital | Models, Molecular | Hematopoiesis - genetics | Radius - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Thrombocytopenia - metabolism | Animals | Transforming Growth Factor beta - genetics | Ulna - metabolism | Bone Marrow - abnormalities | MDS1 and EVI1 Complex Locus Protein | Transforming Growth Factor beta - metabolism | Musculoskeletal diseases | Genetic disorders | Gene mutations | Causes of | Blood clotting disorders | Genetic aspects | Health aspects | Bone marrow | Genetics | Chromatin | Gene loci | Mutation | Binding sites | Index Medicus | Report
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Journal Article