Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.
Knopf
C
C
Department of Pediatrics, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel.
Rod
R
R
Jaeken
J
J
Berant
M
M
Van Schaftingen
E
E
Fryns
J P
JP
Brill-Zamir
R
R
Gershoni-Baruch
R
R
Lischinsky
S
S
Mandel
H
H
D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti; D007525:Isoelectric Focusing; D008359:Mannose-6-Phosphate Isomerase / Q000378:metabolism; D009030:Mosaicism; D017875:Phosphotransferases (Phosphomutases) / Q000378:metabolism; D020033:Protein Isoforms / Q000032:analysis; D014168:Transferrin / Q000032:analysis*; D014314:Trisomy; D000515:alpha 1-Antitrypsin / Q000032:analysis; D001619:beta-N-Acetylhexosaminidases / Q000032:analysis
D020033:Protein Isoforms; D014168:Transferrin; D000515:alpha 1-Antitrypsin; D001619:beta-N-Acetylhexosaminidases; D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase