First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia.
Lydie
L
Da Costa
Geneviève
G
Chanoz-Poulard
Maud
M
Simansour
Martine
M
French
Raymonde
R
Bouvier
Fabienne
F
Prieur
Nathalie
N
Couque
Anne Lise
AL
Delezoide
Thierry
T
Leblanc
Narla
N
Mohandas
Renaud
R
Touraine
D029503:Anemia, Diamond-Blackfan / Q000196:embryology / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D001132:Arm / Q000002:abnormalities / Q000196:embryology; D018389:Codon, Nonsense; D005091:Exons; D005260:Female; D005313:Fetal Death; D005317:Fetal Growth Retardation / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D017880:Limb Deformities, Congenital / Q000196:embryology / Q000209:etiology; D009154:Mutation; D011247:Pregnancy; D012269:Ribosomal Proteins / Q000235:genetics* / Q000378:metabolism
D018389:Codon, Nonsense; D012269:Ribosomal Proteins; C040343:ribosomal protein S19