Mutations in the Chediak-Higashi Syndrome Gene ( CHS1 ) Indicate Requirement for the Complete 3801 Amino Acid CHS Protein

By Karim Mohammad A.   Nagle Deborah L.   Kandil Hesham H.   Burger Joachim   Moore Karen J.   Spritz Richard A.  

Human Molecular Genetics, Vol. 6, Iss. 7, 1997-01 ,pp. : 1087-1089

Oxford University Press

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Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations

By Masabanda J.   Griffin D.   Warren M.   Smith A.   Partridge N.   Ashworth A.  

Human Molecular Genetics, Vol. 11, Iss. 7, 2002-04 ,pp. : 841-851

Oxford University Press

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Mutations in the palmitoyl-protein thioesterase gene ( PPT ; CLN1 ) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits

By Taschner P.E.M.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 291-297

Oxford University Press

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Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

By Bowne Sara J.   Daiger Stephen P.   Hims Matthew M.  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 2121-2128

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Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter ( DTDST ) gene mutations in HEK cells

By Karniski Lawrence P.  

Human Molecular Genetics, Vol. 13, Iss. 19, 2004-10 ,pp. : 2165-2171

Oxford University Press

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