Novel Mutations in Sanfilippo a Syndrome: Implications for Enzyme function

By Weber Birgit   Guo Xiao-Hui   Wraith J. Ed.   Cooper Alan   Kleijer Wim J.   Bunge Susanna   Hopwood John J.  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1573-1579

Oxford University Press

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Cloning and Expression of the Gene Involved in Sanfilippo B Syndrome (Mucopolysaccharidosis III B)

By Weber Birgit   Blanch Lianne   Clements Peter R.   Scott Hamish S.   Hopwood John J.  

Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 771-777

Oxford University Press

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Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B

By Wang Bing   Sinha Tanvi   Jiao Kai   Serra Rosa   Wang Jianbo  

Human Molecular Genetics, Vol. 20, Iss. 2, 2011-01 ,pp. : 271-285

Oxford University Press

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Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome

By Buller C.   Xu X.   Marquis V.   Schwanke R.   Xu P-X.  

Human Molecular Genetics, Vol. 10, Iss. 24, 2001-11 ,pp. : 2775-2781

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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

By Ars Elisabet   Serra Eduard   García Judit   Kruyer Helena   Gaona Antonia   Lázaro Conxi   Estivill Xavier  

Human Molecular Genetics, Vol. 9, Iss. 2, 2000-01 ,pp. : 237-247

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