Duchenne Muscular Dystrophy
Seiten
1988
|
Revised edition
Oxford University Press (Verlag)
978-0-19-261798-9 (ISBN)
Oxford University Press (Verlag)
978-0-19-261798-9 (ISBN)
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The author draws on his own studies of treating more than 200 patients to give a critical account of this common genetic disorder. The identification and isolation of the gene responsible for the disorder are described, followed by characterization of its related protein, dystrophin.
Duchenne muscular dystrophy is a common genetic disorder affecting primarily young males. The author draws on his own studies of treating more than 200 patients and gives a critical account of what is now known about a disease that has been the subject of much clinical research in the last decade. The book discusses the identification and isolation of the locus of the responsible gene, its unexpected size and complexity and the characterization of the related protein, dystrophin, which is a component of skeletal muscle.
Duchenne muscular dystrophy is a common genetic disorder affecting primarily young males. The author draws on his own studies of treating more than 200 patients and gives a critical account of what is now known about a disease that has been the subject of much clinical research in the last decade. The book discusses the identification and isolation of the locus of the responsible gene, its unexpected size and complexity and the characterization of the related protein, dystrophin, which is a component of skeletal muscle.
History of the disease; clinical features; confirmation of the diagnosis; differential diagnosis; involvement of tissues other than skeletal muscle; biochemistry of Duchenne muscular dystrophy; pathogenesis; genetics; molecular pathology; prevention; genetic counselling; management.
Erscheint lt. Verlag | 1.12.1988 |
---|---|
Zusatzinfo | 50 half-tones, 47 line drawings, index |
Verlagsort | Oxford |
Sprache | englisch |
Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie |
Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie | |
ISBN-10 | 0-19-261798-2 / 0192617982 |
ISBN-13 | 978-0-19-261798-9 / 9780192617989 |
Zustand | Neuware |
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