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Literature summary for 2.4.1.228 extracted from

  • Lv, X.; Chen, Y.; Luo, Y.; Li, L.; Wang, H.
    The synonymous 903C>G mutation in the alpha 1,4-galactosyltransferase gene in a Chinese woman with habitual abortion A case report (2019), Medicine (Baltimore), 98, e16361 .
    View publication on PubMedView publication on EuropePMC

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9NPC4
-
-

Synonyms

Synonyms Comment Organism
A4GalT
-
Homo sapiens

General Information

General Information Comment Organism
malfunction habitual abortion in a Chinese woman is caused by the synonymous 903C>G mutation in the A4GALT gene. The synonymous mutation of 903C>G in the A4GALT gene causes the p phenotype in P1Pk blood system and it is the in vivo anti-PP1Pk antibody of the patient that causes habitual abortion Homo sapiens