Table 1.

Summary of GATA1 mutations detected in down syndrome fetal and infant hematopoietic tissues


Sample

Age

Mutation

Last normal amino acid
Fetal liver   21 wk   240insG; 273del 2 bp   Asp42  
Fetal liver   23 wk*  318del 13bp   Ala68  
Infant bone marrow   4 mo   299ins 4 bp   Tyr62  
Infant bone marrow
 
6 mo
 
299insT
 
Tyr62
 

Sample

Age

Mutation

Last normal amino acid
Fetal liver   21 wk   240insG; 273del 2 bp   Asp42  
Fetal liver   23 wk*  318del 13bp   Ala68  
Infant bone marrow   4 mo   299ins 4 bp   Tyr62  
Infant bone marrow
 
6 mo
 
299insT
 
Tyr62
 
*

Gestational age

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