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Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

✍ Scribed by Superti-Furga, Andrea; Hästbacka, Johanna; Wilcox, William R.; Cohn, Daniel H.; van der Harten, Hans J.; Rossi, Antonio; Blau, Nenad; Rimoin, David L.; Steinmann, Beat; Lander, Eric S.


Book ID
109914939
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
381 KB
Volume
12
Category
Article
ISSN
1061-4036

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Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease characterized by ineffective erythropoiesis, hemolysis, erythroblast morphological abnormalities, and hypoglycosylation of some red blood cell (RBC) membrane proteins. Recent studies indicated that CDAII is caused