Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor ε Subunit Gene: Identification and Functional Characterization of Six New Mutations

By Ohno Kinji  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 753-766

Oxford University Press

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Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels

By O'Seaghdha Conall M.   Yang Qiong   Glazer Nicole L.   Leak Tennille S.   Dehghan Abbas   Smith Albert V.   Kao W.H. Linda   Lohman Kurt   Hwang Shih-Jen   Johnson Andrew D.   Hofman Albert   Uitterlinden Andre G.   Chen Yii-Der Ida   Brown Edward M.   Siscovick David S.   Harris Tamara B.   Psaty Bruce M.   Coresh Josef   Gudnason Vilmundur   Witteman Jacqueline C.   Liu Yong Mei   Kestenbaum Bryan R.   Fox Caroline S.   Kttgen Anna  

Human Molecular Genetics, Vol. 19, Iss. 21, 2010-11 ,pp. : 4296-4303

Oxford University Press

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Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly

By Pidasheva Svetlana   Grant Michael   Canaff Lucie   Ercan Oya   Kumar Ujendra   Hendy Geoffrey N.  

Human Molecular Genetics, Vol. 15, Iss. 14, 2006-07 ,pp. : 2200-2209

Oxford University Press

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Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

By Morrissette J.J.D.   Colliton R.P.   Spinner N.B.  

Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 405-413

Oxford University Press

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Mutations and impaired function of LKB1 in familial and non-familial Peutz–Jeghers syndrome and a sporadic testicular cancer

By Markie D.  

Human Molecular Genetics, Vol. 8, Iss. 1, 1999-01 ,pp. : 45-51

Oxford University Press

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