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3 in total

1. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.

Authors: J M Newton; O Cohen-Barak; N Hagiwara; J M Gardner; M T Davisson; R A King; M H Brilliant
Journal: Am J Hum Genet Date: 2001-09-26 Impact factor: 11.025

2. Structure of the human C6 gene.

Authors: M J Hobart; B Fernie; R G DiScipio
Journal: Biochemistry Date: 1993-06-22 Impact factor: 3.162

3. The molecular basis of C6 deficiency in the western Cape, South Africa.

Authors: M J Hobart; B A Fernie; K A Fijen; A Orren
Journal: Hum Genet Date: 1998-10 Impact factor: 4.132

3 in total

5 in total

1. Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

Authors: Robert Aquaron; Nadem Soufir; Jean-Louis Bergé-Lefranc; Catherine Badens; Frederic Austerlitz; Bernard Grandchamp
Journal: J Hum Genet Date: 2007-09-01 Impact factor: 3.172

Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.

1. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.

2. Structure of the human C6 gene.

3. The molecular basis of C6 deficiency in the western Cape, South Africa.

1. Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

2. Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease.

3. Novel pathogenic mutations identified in the first Chinese pedigree of complete C6 deficiency.

Review 4. Innate Immunity: A Balance between Disease and Adaption to Stress.

Review 5. Biological functions of fucose in mammals.