Article
SMIM1 underlies the Vel blood group and influences red blood cell traits.
Nature genetics - 1 May 2013
Cvejic Ana, Haer-Wigman Lonneke, Stephens Jonathan C, Kostadima Myrto, Smethurst Peter A, Frontini Mattia, van den Akker Emile, Bertone Paul, Bielczyk-Maczyńska Ewa, Farrow Samantha, Fehrmann Rudolf Sn, Gray Alan, de Haas Masja, Haver Vincent G, Jordan Gregory, Karjalainen Juha, Kerstens Hindrik Hd, Kiddle Graham, Lloyd-Jones Heather, Needs Malcolm, Poole Joyce, Soussan Aicha Ait, Rendon Augusto, Rieneck Klaus, Sambrook Jennifer G, Schepers Hein, Silljé Herman H W, Sipos Botond, Swinkels Dorine, Tamuri Asif U, Verweij Niek, Watkins Nicholas A, Westra Harm-Jan, Stemple Derek, Franke Lude, Soranzo Nicole, Stunnenberg Hendrik G, Goldman Nick, van der Harst Pim, van der Schoot C Ellen, Ouwehand Willem H, Albers Cornelis A
Abstract excerpt
The blood group Vel was discovered 60 years ago, but the underlying gene is unknown. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel. To identify the responsible gene, we sequenced the exomes of five individuals negative for the Vel antigen and found that four were homozygous and one was heterozygous for a low-frequency 17-nucleotide...
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