Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population
about
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid CancerAbsence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients.Inherited hematological disorders due to defects in coat protein (COP)II complex.Congenital dyserythropoietic anemias: molecular insights and diagnostic approachDiagnosis and management of congenital dyserythropoietic anemias.Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.
P2860
Q28115011-F5B4FEF6-51E5-4C08-810E-0E1D45FEC078Q34298053-7AC282E4-C5FA-4330-8753-5F3D90C012F7Q34306088-26623125-3E57-4B22-BD96-4EFBF29F5728Q37434242-823D7DBD-B16C-4FA8-BBFE-F3B059D7F601Q38024078-D6DF2A37-7538-4586-ABAA-DED9434FE5BEQ38128556-9A9340AB-1068-4179-9517-6079122C72CEQ38664955-D08B937A-02A2-4501-9116-F5AE1B7CEABDQ39547098-39229E7F-7707-4CD5-9887-8C3E6B659F25Q40762384-F230BEF3-0144-40D1-95C8-51FD492A49B9Q48251048-FB409625-0EFA-422F-908D-7ECF6DFC352EQ53086702-DB4B240C-3E7C-4816-9992-497FB2E871FE
P2860
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Two founder mutations in the S ...... A II in the Italian population
@ast
Two founder mutations in the S ...... A II in the Italian population
@en
type
label
Two founder mutations in the S ...... A II in the Italian population
@ast
Two founder mutations in the S ...... A II in the Italian population
@en
prefLabel
Two founder mutations in the S ...... A II in the Italian population
@ast
Two founder mutations in the S ...... A II in the Italian population
@en
P2093
P2860
P356
P1476
Two founder mutations in the S ...... A II in the Italian population
@en
P2093
Achille Iolascon
Annaelena Troiano
Antonella Gambale
Hannah Tamary
Ilaria De Maggio
Jean Delaunay
Maria Luisa Serra
Maria Rosaria Esposito
Mario Capasso
Roberta Russo
P2860
P304
P356
10.1002/AJH.22096
P577
2011-09-01T00:00:00Z