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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The Mottled Mouse as a Model for Human Menkes Disease: Identification of Mutations in the Atp7a Gene

By Cecchi Chiara   Biasotto Michel   Tosi Mario   Avner Philip  

Human Molecular Genetics, Vol. 6, Iss. 3, 1997-01 ,pp. : 425-433

Oxford University Press

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Transcription and mRNA splicing of the human lactoferrin gene controlled by the regulatory region of the bovine α S1 casein gene in the mammary gland of transgenic mice and in mouse embryonic stem cells

By Zakharova E.   Pryzhkova M.   Kibardin A.   Ermolkevich T.   Kadulin S.   Gnuchev N.   Kiselev S.  

Russian Journal of Genetics, Vol. 41, Iss. 3, 2005-03 ,pp. : 227-232

MAIK Nauka/Interperiodica

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Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk

By Khan Sikandar G.  

Human Molecular Genetics, Vol. 13, Iss. 3, 2004-02 ,pp. : 343-352

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Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene

By Campeau E.   Dupuis L.   Leclerc D.   Gravel R.A.  

Human Molecular Genetics, Vol. 8, Iss. 1, 1999-01 ,pp. : 107-113

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