| http://purl.uniprot.org/citations/20691621 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20691621 | http://www.w3.org/2000/01/rdf-schema#comment | "Hemoglobin (Hb) H disease is a moderate form of α-thalassemia resulting from various genetic defects. A novel frameshift mutation cd 43/44(-C) at the α2-globin gene was identified in a Chinese boy with hemoglobin H disease by sequencing. The proband's mother carries a common α-thalassemia deletion while his father was normal both in the hematological phenotype and α-globin genotype, which suggested that it occurred as a de novo mutation. Molecular studies revealed a compound heterozygote for the Southeast Asian α-thalassemia deletion and this novel spontaneous mutation (-/α(T)α) and the patient exhibited the clinical manifestation of classic hemoglobin H disease. Based on the results of excluding the possibility of a somatic mosaicism of a point mutation in the α2-globin gene, we progress that this de novo single-base deletion should have arisen during the spermatogenic process or earlier embryonic stage. The present study provides information in determining a supplementary model of inheritance for α-thalassemia, which should be useful in genetic counseling."xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bcmd.2010.07.005"xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/author | "Chen L."xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/author | "Xu X."xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/author | "Yu W."xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/author | "Xie J."xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/author | "Ding H."xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/author | "Zhu C."xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/author | "Shang X."xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/name | "Blood Cells Mol Dis"xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/pages | "223-226"xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/title | "Hemoglobin H disease due to a de novo mutation at the alpha2-globin gene and an inherited common alpha-thalassemia deletion found in a Chinese boy."xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://purl.uniprot.org/core/volume | "45"xsd:string |
| http://purl.uniprot.org/citations/20691621 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20691621 |
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