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6 in total

1. Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Authors: Fengxiao Bu; Tara Maga; Nicole C Meyer; Kai Wang; Christie P Thomas; Carla M Nester; Richard J H Smith
Journal: J Am Soc Nephrol Date: 2013-09-12 Impact factor: 10.121

2. A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients.

Authors: S Hofferbert; J Müller; H Köstering; W D von Ohlen; M Schloesser
Journal: Hum Genet Date: 1996-06 Impact factor: 4.132

3. Factor XII gene mutation in the Hageman family.

Authors: Y O Xu-Cai; J Shen; S Chen; Y Zhou; G A Larusch; E Stavrou; A H Schmaier; Q Wu
Journal: J Thromb Haemost Date: 2011-11 Impact factor: 5.824

4. Cerebral visual impairment and intellectual disability caused by PGAP1 variants.

Authors: Daniëlle G M Bosch; F Nienke Boonstra; Taroh Kinoshita; Shalini Jhangiani; Joep de Ligt; Frans P M Cremers; James R Lupski; Yoshiko Murakami; Bert B A de Vries
Journal: Eur J Hum Genet Date: 2015-03-25 Impact factor: 4.246

Review 5. Biological functions of fucose in mammals.

Authors: Michael Schneider; Esam Al-Shareffi; Robert S Haltiwanger
Journal: Glycobiology Date: 2017-07-01 Impact factor: 4.313

6. Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Authors: Igor Vorechovský
Journal: Nucleic Acids Res Date: 2006-09-08 Impact factor: 16.971

6 in total