| dc.creator | Rosa, KA | |
| dc.creator | Reid, ME | |
| dc.creator | Lomas-Francis, C | |
| dc.creator | Powell, VI | |
| dc.creator | Costa, FF | |
| dc.creator | Stinghen, ST | |
| dc.creator | Watanabe, AM | |
| dc.creator | Carboni, EK | |
| dc.creator | Baldon, JP | |
| dc.creator | Jucksch, MMF | |
| dc.creator | Castilho, L | |
| dc.date | 2005 | |
| dc.date | NOV | |
| dc.date | 2014-11-17T04:36:30Z | |
| dc.date | 2015-11-26T16:37:59Z | |
| dc.date | 2014-11-17T04:36:30Z | |
| dc.date | 2015-11-26T16:37:59Z | |
| dc.date.accessioned | 2018-03-28T23:21:13Z | |
| dc.date.available | 2018-03-28T23:21:13Z | |
| dc.identifier | Transfusion. Blackwell Publishing, v. 45, n. 11, n. 1796, n. 1798, 2005. | |
| dc.identifier | 0041-1132 | |
| dc.identifier | WOS:000232774700017 | |
| dc.identifier | 10.1111/j.1537-2995.2005.00605.x | |
| dc.identifier | http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/79841 | |
| dc.identifier | http://www.repositorio.unicamp.br/handle/REPOSIP/79841 | |
| dc.identifier | http://repositorio.unicamp.br/jspui/handle/REPOSIP/79841 | |
| dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1272174 | |
| dc.description | BACKGROUND: The deficiency of Rh proteins on red blood cells (RBCs) from individuals of the Rh-null amorph type are the result of homozygosity for a silent RHCE in cis with a deleted RHD. A novel mutation in RHce was identified in two Caucasian Brazilian girls with the amorph type of Rh-null who were born to parents who were first cousins. STUDY DESIGN AND METHODS: RBCs from the Rh-null sisters and from family members were analyzed by serology and flow cytometry with specific antibodies. Genomic DNA and transcripts were tested by polymerase chain reaction and sequence analysis. RESULTS: Rh-null RBCs were nonreactive with anti-Rh and anti-LW. Molecular analyses showed a deletion of RHD and of one nucleotide (960/963; GGGG -> GGG) in exon 7 of the RHce. This deletion introduced a frameshift after Gly321, a new C-terminal sequence, and a premature stop codon, resulting in a shorter predicted protein with 357 amino acids. CONCLUSION: The detection of a unique RHce transcript indicated that the two sisters were homozygous, whereas the other family members were heterozygous for the mutation. A novel mutation resulting in the amorph Rh-null with loss of Rh antigen expression is described. | |
| dc.description | 45 | |
| dc.description | 11 | |
| dc.description | 1796 | |
| dc.description | 1798 | |
| dc.language | en | |
| dc.publisher | Blackwell Publishing | |
| dc.publisher | Oxford | |
| dc.publisher | Inglaterra | |
| dc.relation | Transfusion | |
| dc.relation | Transfusion | |
| dc.rights | fechado | |
| dc.source | Web of Science | |
| dc.subject | Amorph Type | |
| dc.subject | Disease | |
| dc.subject | Gene | |
| dc.title | Rh-null syndrome: identification of a novel mutation in RHce | |
| dc.type | Artículos de revistas | |
