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PLoS Pathogens, ISSN 1553-7366, 2014, Volume 10, Issue 6, p. e1004211
Journal Article
Veterinary Microbiology, ISSN 0378-1135, 10/2014, Volume 173, Issue 3-4, pp. 258 - 269
Journal Article
Hemoglobin, ISSN 0363-0269, 03/2019, Volume 43, Issue 2, pp. 112 - 115
α-Thalassemia (α-thal) is a common hemoglobinopathy mainly caused by deletion of one or both α-globin genes. We describe an autochthonous Belgian family... 
α-Thalassemia (α-thal) trait | novel large deletion | Belgian family | Belgium | alpha-Globins - genetics | Humans | Family | Heterozygote | Hemoglobins, Abnormal | alpha-Thalassemia - genetics | Hydrops Fetalis | Sequence Deletion - genetics | Telomere - genetics | GENE | alpha-Thalassemia (alpha-thal) trait | HEMATOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY
Journal Article
Journal Article
by Lv, F and Ma, M and Liu, W and Xu, X and Song, Y and Li, L and Jiang, Y and Wang, O and Xia, W and Xing, X and Qiu, Z and Li, M
Osteoporosis International, ISSN 0937-941X, 9/2017, Volume 28, Issue 9, pp. 2691 - 2700
Journal Article
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 04/2018, Volume 9, p. 145
Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. Among... 
Maple syrup urine disease | Large deletion | Dried blood spot | BCKDHB | Novel mutation | MANAGEMENT | MECHANISM | CEREBRAL EDEMA | maple syrup urine disease | DISORDERS | large deletion | REARRANGEMENTS | dried blood spot | DEFICIENCY | novel mutation | GENETICS & HEREDITY | MUTATIONS | Usage | Chinese | Genetic aspects | Diagnosis | Nucleotide sequencing | Health aspects | Risk factors | DNA sequencing
Journal Article