Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
about
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemiaCodanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supplyThe inherited bone marrow failure syndromesElevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.Analysis of candidate colitis genes in the Gdac1 locus of mice deficient in glutathione peroxidase-1 and -2.Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon AlphaNew Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-ThalassemiaHomozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type ICodanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemiasA case of congenital dyserythropoietic anemia type IV.Regulation of Replication Fork Advance and Stability by Nucleosome Assembly.Congenital dyserythropoietic anemias: molecular insights and diagnostic approachCongenital dyserythropoietic anemia in China: a case report from two families and a review.Novel methods for studying normal and disordered erythropoiesis.Diagnosis and management of congenital dyserythropoietic anemias.Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox.Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings.A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II.High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I.Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.An autosomal genome-wide screen for celiac disease in Bedouin families.Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child.Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a.Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers.Hb TAYBE: clinical and morphological findings IN 43 patients.Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves.Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.CATSPER2, a human autosomal nonsyndromic male infertility gene
P2860
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P2860
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
description
2002 nî lūn-bûn
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2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
@ast
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
@en
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
@nl
type
label
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
@ast
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
@en
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
@nl
prefLabel
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
@ast
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
@en
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
@en
P2093
Achille Iolascon
Alexandre Pariente
Ariel Koren
Aurore Crétien
Daniel Cattan
Eithan Fibach
Hanna Shalev
Hannah Tamary
Isaac Yaniv
Jean Delaunay
P2860
P304
P3181
P356
10.1086/344781
P407
P577
2002-12-01T00:00:00Z