haemochromatosisHFEElizabeth FaganKennedy-Galton Centre for Medical & Community Genetics, Northwick Park & St. Mark's NHS Trust, Watford Road, Harrow, Middlesex, HA1 3UJ, UKStewart J. PayneKennedy-Galton Centre for Medical & Community Genetics, Northwick Park & St. Mark's NHS Trust, Watfo...
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Wu JY, Yang CF, Lee CC, et al: A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). Hum Mutat 2000;15:389-90.Wu JY, Yang CF, Lee CC, Chang JG, Tsai FJ (2000) A novel mutation (Q239R) identified in...
mucopolysaccharidosis type VI: MPS VIarylsulfatase B: AS BMucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome, is a autosomal recessive disorder, due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB: EC 3.1.6.12). Three classi...
Bondenson, Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis type II) patients, Hum. Mutat. 12 (1998) 433.Karsten SL, Voskoboeva E, Carlberg BM, Kleijer WJ, Tsnnesen T, Pettersson U, Bondeson ML. 1998. Identification of 9 novel IDS...
Orii, Mucopolysaccharidosis type I: identification of common muta- tions that cause Hurler and Scheie syndromes in Japanese populations, Hum. Mutat. 7 (1996) 23-29.Yamagishi A,Tomatus S,Fukuda S,et al.Mucopolysaccharidosis type one: identification of common mutations that cause Hurler and ...