Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30

By Marziano N.K.  

Human Molecular Genetics, Vol. 12, Iss. 8, 2003-04 ,pp. : 805-812

Oxford University Press

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The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

By Hartung A.J.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1661-1669

Oxford University Press

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Mutations in the diastrophic dysplasia sulfate transporter ( DTDST ) gene: correlation between sulfate transport activity and chondrodysplasia phenotype

By Karniski L.P.  

Human Molecular Genetics, Vol. 10, Iss. 14, 2001-07 ,pp. : 1485-1490

Oxford University Press

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

By Longman Cheryl  

Human Molecular Genetics, Vol. 12, Iss. 21, 2003-11 ,pp. : 2853-2861

Oxford University Press

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Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice

By Johnson Eric B.  

Human Molecular Genetics, Vol. 14, Iss. 22, 2005-11 ,pp. : 3523-3538

Oxford University Press

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