1 | A4GALT, PBGS
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| A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.
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| Suchanowska A, Kaczmarek R, Duk M, Lukasiewicz J, Smolarek D, Majorczyk E, Jaskiewicz E, Laskowska A, Wasniowska K, Grodecka M, Lisowska E, Czerwinski M.
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| J Biol Chem 287(45):38220-30. doi: 10.1074/jbc.M112.408286. Epub 2012 Sep 10. Erratum in: J Biol Chem. 2013 Jan 4;288(1):294.
2012
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2 | A4GALT, PBGS
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| Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype.
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| Koda Y, Soejima M, Sato H, Maeda Y, Kimura H.
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| Transfusion 42(1):48-51. 2002
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3 | A4GALT, PBGS, PK
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| Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype.
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| Steffensen R, Carlier K, Wiels J, Levery SB, Stroud M, Cedergren B, Nilsson Sojka B, Bennett EP, Jersild C, Clausen H.
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| J Biol Chem 275(22):16723-9. 2000
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4 | A4GALT, PBGS
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| Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids.
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| Kojima Y, Fukumoto S, Furukawa K, Okajima T, Wiels J, Yokoyama K, Suzuki Y, Urano T, Ohta M, Furukawa K.
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| J Biol Chem 275(20):15152-6. 2000
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5 | PBGS, TCN2
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| Linkage of transcobalamin II (TC2) to the P blood group system and assignment to chromosome 22.
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| Eiberg H, et al.
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| Clin Genet 29 : 354-359. 1986
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6 | IGLC@, IGLV@, MB, PBGS, PDGFB
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| New restriction fragment length polymorphisms on human chromosome 22 at loci SIS, MB and IGLV.
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| Julier C, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 664. 1985
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