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6 results on '"Herbert Lochs"'

2. Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease

Author

Janine Genschel, Carsten A. Buettner, Herbert Lochs, Anna Członkowska, Hartmut H.-J. Schmidt, Grit Sommer, and Bettina Bochow

Subjects
DNA Mutational Analysis, Mutation, Missense, Disease, Biology, chemistry.chemical_compound, Exon, Hepatolenticular Degeneration, Copper-transporting ATPase, Genetics, Humans, Cation Transport Proteins, Genetics (clinical), Adenosine Triphosphatases, DNA, Exons, Transport protein, chemistry, Codon, Nonsense, Copper-Transporting ATPases, Carrier protein, Mutation, Mutation (genetic algorithm), Carrier Proteins
Published
2001

3. A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy

Author

Herbert Lochs, Roland Hetzer, Ralf Ewert, Hartmut H.-J. Schmidt, Bettina Bochow, Susanne Kuepferling, and Janine Genschel

Subjects
Cardiomyopathy, Dilated, Genetics, DNA Mutational Analysis, Mutation, Missense, Cardiomyopathy, Nuclear Proteins, Dilated cardiomyopathy, DNA, Biology, Lamin Type A, medicine.disease, Lamins, LMNA, Amino Acid Substitution, Mutation (genetic algorithm), medicine, Humans, Genetics (clinical), Lamin
Published
2001

4. A new frameshift mutation at codon 466 (1397delA) within the LMNA gene Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #151 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr151.pdf Acknowledgments: For their excellent technical help Bettina Bochow is acknowledged

Author

Janine Genschel, Peter Baier, Susanne Kuepferling, Marcus J. Proepsting, Carsten Buettner, Ralf Ewert, Roland Hetzer, Herbert Lochs, and Hartmut H.-J. Schmidt

Subjects
Genetics, Genetics (clinical)
Published
2000

6. A new frameshift mutation at codon 466 (1397delA) within the LMNA gene

Author

Ralf Ewert, Herbert Lochs, Peter Baier, Hartmut H.-J. Schmidt, Susanne Kuepferling, Janine Genschel, Carsten A. Buettner, Roland Hetzer, and Marcus J. Proepsting

Subjects
Cardiomyopathy, Dilated, Genetics, Adenosine, Cardiomyopathy, Nuclear Proteins, Biology, medicine.disease, Lamins, Frameshift mutation, LMNA, medicine, Humans, Missense mutation, Codon, Frameshift Mutation, Gene, Genetics (clinical), Lamin, Sequence Deletion
Published
2000

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