A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia.
Aróstegui
Juan I
JI
de Toledo
José Sánchez
JS
Pascal
Mariona
M
García
Carlos
C
Yagüe
Jordi
J
Díaz de Heredia
Cristina
C
D000595:Amino Acid Sequence; D020029:Base Pairing / Q000235:genetics; D004252:DNA Mutational Analysis; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion / Q000502:physiology; D055815:Young Adult
D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human