Multiple miscarriages in two sisters of Thai origin with the rare Pk phenotype caused by a novel nonsense mutation at the B3GALNT1 locus

Author:

Ricci Hagman J.12,Hult A. K.12ORCID,Westman J. S.1,Hosseini-Maaf B.2,Jongruamklang P.1,Saipin J.3,Bejrachandra S.3,Olsson M. L.12

Affiliation:

1. Division of Hematology and Transfusion Medicine, Department of Laboratory Medicine; Lund University; Lund Sweden

2. Clinical Immunology and Transfusion Medicine, Division of Laboratory Medicine, Office of Medical Services, Region Skåne; Sweden

3. Department of Transfusion Medicine, Faculty of Medicine Siriraj Hospital; Mahidol University; Bangkok Thailand

Funder

governmental “Avtal om Läkarutbildning och Forskning (ALF)”

Knut och Alice Wallenbergs Stiftelse

Vetenskapsrådet

Publisher

Wiley

Subject

Hematology

Reference26 articles.

1. Anti-PP1Pk and early abortion;Cantin;Transfusion,1983

2. P blood group regulation of glycosphingolipid levels in human erythrocytes;Fletcher;The Journal of Biological Chemistry,1979

3. Anti-TJa alloimmunization (anti-PP1Pk);Haentjens-Verbeke;Fetal Diagnosis and Therapy,1996

4. Molecular basis of the globoside-deficient Pk blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine:globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene;Hellberg;Journal of Biological Chemistry,2002

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