Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein

By Schwahn U.   Paland N.   Techritz S.   Lenzner S.   Berger W.  

Human Molecular Genetics, Vol. 10, Iss. 11, 2001-05 ,pp. : 1177-1183

Oxford University Press

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Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

By Schachter S.C.  

Human Molecular Genetics, Vol. 10, Iss. 17, 2001-08 ,pp. : 1775-1783

Oxford University Press

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Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP)

By Rowe Peter S. N.   Oudet Claudine L.   Francis Fiona   Sinding Christiane   Pannetier Solange   Econs Mike J.   Strom Tim M.   Meitinger Thomas   Garabedian Michele   David Albert   Macher Marie-Alice   Questiaux Elisabeth   Popowska Ewa   Pronicka Ewa   Read Andrew P.   Mokrzycki Agnes   Glorieux Francis H.   Drezner Marc K.   Hanauer Andre   Lehrach Hans   Goulding Johnathan N.   O'Riordan Jeffrey L. H.  

Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 539-549

Oxford University Press

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Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy

By Laporte Jocelyn  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1505-1511

Oxford University Press

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New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

By Cox Timothy C.  

Human Molecular Genetics, Vol. 9, Iss. 17, 2000-10 ,pp. : 2553-2562

Oxford University Press

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