New Mutations in Acetylcholine Receptor Subunit Genes Reveal Heterogeneity in the Slow-Channel Congenital Myasthenic Syndrome

By Engel Andrew G.   Ohno Kinji   Milone Margherita   Wang Hai-Long   Nakano Satoshi   Bouzat Cecilia   Pruitt J. Ned   Hutchinson David O.   Brengman Joan M.   Bren Nina   Sieb Joern P.   Sine Steven M.  

Human Molecular Genetics, Vol. 5, Iss. 9, 1996-01 ,pp. : 1217-1227

Oxford University Press

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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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Functional analysis of Peutz–Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity

By Forcet Christelle  

Human Molecular Genetics, Vol. 14, Iss. 10, 2005-05 ,pp. : 1283-1292

Oxford University Press

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Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

By Roessler Erich  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1847-1853

Oxford University Press

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Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor α Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome

By Croxen Rebecca  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-05 ,pp. : 767-774

Oxford University Press

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