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Human Mutation, ISSN 1059-7794, 03/2017, Volume 38, Issue 3, pp. 317 - 323
Journal Article
Hemoglobin, ISSN 0363-0269, 11/2016, Volume 40, Issue 6, pp. 428 - 430
β-Thalassemia (β-thal) is a common hereditary anemia due to decreased or absent synthesis of the β-globin chains. Here, we report a patient found to be a novel... 
sequence analysis | β-Thalassemia | compound heterozygosity | DNA | point mutation | BIOCHEMISTRY & MOLECULAR BIOLOGY | beta-Thalassemia | MUTATION | HEMATOLOGY | Point Mutation | Silent Mutation | Hemoglobin A2 - genetics | China | Humans | beta-Thalassemia - genetics | Adult | Erythrocyte Indices | Heterozygote | Male | Sequence Analysis, DNA | beta-Globins - genetics
Journal Article
Hemoglobin, ISSN 0363-0269, 05/2016, Volume 40, Issue 3, pp. 210 - 212
Nondeletional α-thalassemia (α-thal) is the result of point mutations in critical regions of the α-globin genes, affecting mRNA processing, mRNA translation,... 
Hb Quong Sze (Hb QS) | compound heterotozygosity | Hb Constant Spring (Hb CS) | α-Thalassemia (α-thal) | nondeletional | Homozygote | Anemia - genetics | Phenotype | Hemoglobins, Abnormal - genetics | Humans | Adult | alpha-Thalassemia - genetics | Mutation - genetics
Journal Article
Journal Article
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, 07/2018, Volume 19, Issue 5-6, pp. 407 - 412
Activation of the TREM2 receptor on microglia stimulates phagocytosis and decreases the microglial proinflammatory response. Mutations in exon 2 of the TREM2... 
ALS | TREM2 | compound heterozygosity | FTD | CRITERIA | DIAGNOSIS | DEMENTIA | ALZHEIMERS-DISEASE | R47H VARIANT | CLINICAL NEUROLOGY | RISK-FACTOR | MUTATIONS | CODING VARIANTS
Journal Article
Hormone Research in Paediatrics, ISSN 1663-2818, 05/2016, Volume 85, Issue 4, pp. 283 - 287
Journal Article
Journal Article
HEMOGLOBIN, ISSN 0363-0269, 2018, Volume 42, Issue 2, pp. 84 - 90
Hemoglobinopathies evolved as a protective mechanism against malaria, which exhibit selective advantage in the heterozygous state. However, in a homozygous... 
Fetal hemoglobin (Hb F) | compound heterozygosity | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENE-CLUSTER HAPLOTYPES | sickle cell disease | Chhattisgarh State | TRANSFUSION-DEPENDENT THALASSEMIA | beta-Thalassemia (-thal) | FETAL-HEMOGLOBIN | DISEASE | MALARIA RESISTANCE | ANEMIA | MUTATIONS | BETA-THALASSEMIA | HEMATOLOGY | SAUDI-ARABIA | sickle cell anemia | ALPHA-GLOBIN
Journal Article
Hemoglobin, ISSN 0363-0269, 03/2018, Volume 42, Issue 2, pp. 141 - 142
While knowledge of HBB gene mutations is necessary for offering prenatal diagnosis (PND) of β-thalassemia (β-thal), a genotype-phenotype correlation may not... 
β-Thalassemia (β-thal) | compound heterozygote | Hb Alperton | HEMATOLOGY | VARIANT | BIOCHEMISTRY & MOLECULAR BIOLOGY | beta-Thalassemia (-thal) | Genetic Variation | Genetic Association Studies | Hemoglobins, Abnormal - genetics | Humans | beta-Thalassemia - genetics | Family | Heterozygote | Mutation | beta-Globins - genetics | India
Journal Article
Hemoglobin, ISSN 0363-0269, 05/2016, Volume 40, Issue 3, pp. 208 - 209
We report an infant with a compound heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A) and a phenotype of mild microcytic... 
Compound heterozygosity | microcytic anemia | Hb Osu Christiansborg | Hb C | Phenotype | Hemoglobins, Abnormal - genetics | Humans | Hemoglobin C - genetics | Anemia, Hypochromic - genetics | Heterozygote | Infant
Journal Article