Associated Papers
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz FM et al.
Brain : a Journal of Neurology, 2019
31637422 (PubMed )
Supplement: awz291_supplementary_data.zip › awz291-Suppl_data › Supplementary_Data2.pdf
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
Hettiaracchchi D et al.
Bmc Medical Genetics, 2018
30041615 (PubMed )
Supplement: 12881_2018_646_MOESM1_ESM.xlsx › 180_Hom___cHet
New mutations in C1GALT1C1 in individuals with Tn positive phenotype.
Crew VK et al.
British Journal of Haematology, 2008
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