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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2011, Volume 108, Issue 30, pp. 12390 - 12395
Here we report a human intellectual disability disease locus on chromosome 14q31.3 corresponding to mutation of the ZC3H14 gene that encodes a conserved... 
Protein isoforms | Brain | Messenger RNA | Intellectual disability | RNA | Neurons | Drosophila | Genetic mutation | Human genetics | RNA binding proteins | RNA processing | Mental retardation | Zinc-finger | Polyadenylation | polyadenylation | mental retardation | NUCLEAR | LENGTH CONTROL | RECOGNITION | MULTIDISCIPLINARY SCIENCES | NAB2 | zinc-finger | EXPORT | POLY(A) POLYMERASE | RNA-Binding Proteins - genetics | Drosophila melanogaster - physiology | Humans | Molecular Sequence Data | Male | RNA, Messenger - metabolism | Drosophila melanogaster - genetics | Gene Knockdown Techniques | Intellectual Disability - genetics | Central Nervous System - physiology | Young Adult | Drosophila Proteins - physiology | Iran | Conserved Sequence | Adult | Female | Models, Animal | Nuclear Proteins - genetics | Amino Acid Sequence | RNA-Binding Proteins - physiology | RNA, Messenger - genetics | Chromosome Mapping | Genes, Recessive | Sequence Homology, Amino Acid | Flight, Animal - physiology | Hippocampus - metabolism | Animals | Pedigree | Adolescent | Zinc Fingers - genetics | Consanguinity | Nuclear Proteins - physiology | Drosophila Proteins - genetics | Mutation | Chromosomes, Human, Pair 14 - genetics | Cohort Studies | Evolution, Molecular | Adenosine | Neural circuitry | Gene mutations | Physiological aspects | Genetic aspects | Research | Gene expression | Binding proteins | Proteins | Nervous system | Insects | Index Medicus | Animal models | Flight | Central nervous system | Data processing | Locomotion | RNA-binding protein | chromosome 14 | Cell body | Hippocampus | Biological Sciences
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 02/2018, Volume 23, Issue 2, pp. 222 - 230
Journal Article
HEMOGLOBIN, ISSN 0363-0269, 2015, Volume 39, Issue 3, pp. 152 - 155
Hb H (beta 4) disease is caused by deletion or inactivation of three out of four alpha-globin genes. A high incidence of Hb H disease has been reported all... 
MOLECULAR CHARACTERIZATION | GENOTYPE | ALPHA-THALASSEMIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | hepatosplenomegaly | PHENOTYPE | Hb H disease | CLINICAL-FEATURES | alpha-Thalassemia (alpha-thal) | VARIANT | MUTATION | ANEMIA | HEMATOLOGY | Hb Bart's hydrops fetalis | Hb Dartmouth | NORTHERN THAILAND
Journal Article
HEMOGLOBIN, ISSN 0363-0269, 2015, Volume 39, Issue 5, pp. 355 - 358
We describe a case of Hb H disease associated with homozygosity for a two nucleotide deletion in the polyadenylation signal of the alpha 2-globin gene (HBA2:... 
SIGNAL MUTATION | ALPHA-THALASSEMIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | Hb H disease | HEMATOLOGY | alpha-Thalassemia (alpha-thal) | polyadenylation (polyA) site mutations
Journal Article
Expert review of hematology, 01/2016, Volume 9, Issue 1, p. 107
Hb H disease is an alpha-thalassemia (α-thal) syndrome characterized by chronic hemolytic anemia that occurs when three of total four α-globin genes lost their... 
Young Adult | Point Mutation - genetics | Hemoglobins, Abnormal - genetics | Humans | Middle Aged | Adolescent | Adult | Child
Journal Article
Nature, ISSN 0028-0836, 10/2011, Volume 478, Issue 7367, pp. 57 - 63
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 847 - 855
Journal Article
PEDIATRIC HEMATOLOGY AND ONCOLOGY, ISSN 0888-0018, 02/2011, Volume 28, Issue 1, pp. 89 - 89
Journal Article
Pediatric Hematology and Oncology, ISSN 0888-0018, 02/2011, Volume 28, Issue 1, p. 89
Journal Article