| Entry |
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|---|
| Name |
P/PX2 negative, Pk positive
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| Definition |
Pk // B3GALNT1*P- |
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| Expanded |
G00093 // 8706v2 |
|---|
| Class |
nt06035 Blood group carbohydrate antigen biosynthesis
|
|---|
| Type |
Variant
|
|---|
| Pathway |
| hsa00603 | Glycosphingolipid biosynthesis - globo and isoglobo series |
|
|---|
| Gene |
| 8706 | B3GALNT1; beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) |
|
|---|
| Variant |
8706v2 (B3GALNT1*P-) B3GALNT1 P- allele
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| Metabolite |
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| Reference |
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|---|
| 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. |
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| Journal |
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| Reference |
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|---|
| Authors |
Westman JS, Benktander J, Storry JR, Peyrard T, Hult AK, Hellberg A, Teneberg S, Olsson ML |
|---|
| Title |
Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes. |
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| Journal |
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| LinkDB |
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