TY  - THES
U1  - Dissertation oder Habilitation
A1  - Le, Thi Thanh Huong
T1  - Molecular genetic studies in hereditary laminopathies of man
N2  - The present study was aimed at associating further genes to selected types of laminopathies applying a functional candidate gene approach. Additionally, genotype/phenotype correlations in defined laminopathies were investigated to extend the clinical spectrum and considering practical aspects of molecular genetic analysis in laminopathies. Primary and secondary laminopathies are rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina or proteins interacting with the nuclear lamina. So far at least 14 distinct disease phenotypes of primary laminopathies have been found mostly caused by pleiotropic lamin A/C ( LMNA) mutations. Secondary laminopathies can be caused by mutations in other than lamin genes including emerin (STA), lamin associated protein-2 (LAP2) and ZMPSTE24 (ZMPSTE2).
N2  - The present study was aimed at associating further genes to selected types of laminopathies applying a functional candidate gene approach. Additionally, genotype/phenotype correlations in defined laminopathies were investigated to extend the clinical spectrum and considering practical aspects of molecular genetic analysis in laminopathies. Primary and secondary laminopathies are rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina or proteins interacting with the nuclear lamina. So far at least 14 distinct disease phenotypes of primary laminopathies have been found mostly caused by pleiotropic lamin A/C ( LMNA) mutations. Secondary laminopathies can be caused by mutations in other than lamin genes including emerin (STA), lamin associated protein-2 (LAP2) and ZMPSTE24 (ZMPSTE2).
KW  - Amgen Inc.
KW  - Punktmutation
KW  - Mutational analysis
KW  - laminopathies
Y2  - 2010
U6  - https://nbn-resolving.org/urn:nbn:de:gbv:9-000826-3
UN  - https://nbn-resolving.org/urn:nbn:de:gbv:9-000826-3
ER  -