KEGG   VARIANT: 8706v2
Entry
8706v2                      Variant                                
Name
B3GALNT1 P- allele
Gene
B3GALNT1  beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) [KO:K00719]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
polymorphism
OmimVar: 603094
Network
nt06035  Blood group carbohydrate antigen biosynthesis
Reference
PMID:12023287
  Authors
Hellberg A, Poole J, Olsson ML
  Title
Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine:  globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene.
  Journal
J Biol Chem 277:29455-9 (2002)
DOI:10.1074/jbc.M203047200
Reference
PMID:29873420
  Authors
Ricci Hagman J, Hult AK, Westman JS, Hosseini-Maaf B, Jongruamklang P, Saipin J, Bejrachandra S, Olsson ML
  Title
Multiple miscarriages in two sisters of Thai origin with the rare P(k) phenotype caused by a novel nonsense mutation at the B3GALNT1 locus.
  Journal
Transfus Med 29:202-208 (2019)
DOI:10.1111/tme.12544
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