title: A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia.
authors.forename: Juan I
authors.initials: JI
authors.lastname: Aróstegui
authors.forename: José Sánchez
authors.initials: JS
authors.lastname: de Toledo
authors.forename: Mariona
authors.initials: M
authors.lastname: Pascal
authors.forename: Carlos
authors.initials: C
authors.lastname: García
authors.forename: Jordi
authors.initials: J
authors.lastname: Yagüe
authors.forename: Cristina
authors.initials: C
authors.lastname: Díaz de Heredia
mesh_terms: 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
chemical_list: D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human