Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene.
Fatih
F
Demircioğlu
Mustafa
M
Erkoçoğlu
Mustafa
M
Dilek
Mervan
M
Bekdaş
Sevil
S
Göksügür
Semra
S
Büyükkorkmaz
Seher
S
Açar
D000293:Adolescent; D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002467:Cell Nucleus / Q000648:ultrastructure; D057210:Delayed Diagnosis; D015672:Erythroid Precursor Cells / Q000648:ultrastructure; D005091:Exons / Q000235:genetics; D005260:Female; D006529:Hepatomegaly / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D007565:Jaundice / Q000209:etiology; D020125:Mutation, Missense; D017354:Point Mutation; D013163:Splenomegaly / Q000209:etiology; D033921:Vesicular Transport Proteins / Q000235:genetics*
C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins