❞ كتاب Muscular Dystrophy. Methods and Protocols-Humana Press ❝  ⏤ Katherine M. D. Bushby
Louise V. B. Anderson

❞ كتاب Muscular Dystrophy. Methods and Protocols-Humana Press ❝ ⏤ Katherine M. D. Bushby Louise V. B. Anderson

نبذه عن الكتاب:

moving toward a molecular definition of these disorders, in the clinical context
it is generally of limited value in only a small number of defined situations.
Even when a disease gene has been identified, the types of mutation(s) encountered in a specific disease influence the practical availability of genetic testing
(Table 2). For example, in myotonic dystrophy a single type of mutation (triplet-repeat expansion) is present in most affected individuals. Most patients with
facioscapulohumeral MD can be shown to carry a DNA deletion, variable in
size, but detectable using a single DNA probe (see Chap. 18). In both of these
disorders, therefore, a relatively straightforward analysis can be employed to
identify the majority of affected individuals, although in neither case is the
molecular pathology of the disease understood. In the dystrophinopathies,
the predominance of a particular type of mutation (intragenic deletion) simplifies the analysis in the majority of families (see Chap. 6). The continued need
to apply a range of different tests, to provide as complete an answer as possible
to the questions of carrier testing and prenatal diagnosis in these conditions
means that, although such testing is widely available, it may remain complex
(Chaps. 19 to 23). In other disorders, e.g., the limb-girdle muscular dystrophies
(4), a range of point mutations have been described
Katherine M. D. Bushby
Louise V. B. Anderson - ❰ له مجموعة من الإنجازات والمؤلفات أبرزها ❞ Muscular Dystrophy. Methods and Protocols-Humana Press ❝ ❱
من Biology Books علم الأحياء - مكتبة الكتب العلمية.

نبذة عن الكتاب:
Muscular Dystrophy. Methods and Protocols-Humana Press

2001م - 1446هـ
نبذه عن الكتاب:

moving toward a molecular definition of these disorders, in the clinical context
it is generally of limited value in only a small number of defined situations.
Even when a disease gene has been identified, the types of mutation(s) encountered in a specific disease influence the practical availability of genetic testing
(Table 2). For example, in myotonic dystrophy a single type of mutation (triplet-repeat expansion) is present in most affected individuals. Most patients with
facioscapulohumeral MD can be shown to carry a DNA deletion, variable in
size, but detectable using a single DNA probe (see Chap. 18). In both of these
disorders, therefore, a relatively straightforward analysis can be employed to
identify the majority of affected individuals, although in neither case is the
molecular pathology of the disease understood. In the dystrophinopathies,
the predominance of a particular type of mutation (intragenic deletion) simplifies the analysis in the majority of families (see Chap. 6). The continued need
to apply a range of different tests, to provide as complete an answer as possible
to the questions of carrier testing and prenatal diagnosis in these conditions
means that, although such testing is widely available, it may remain complex
(Chaps. 19 to 23). In other disorders, e.g., the limb-girdle muscular dystrophies
(4), a range of point mutations have been described .
المزيد..

تعليقات القرّاء:

Biologically

Biology is a natural science that is concerned with the study of life, its various forms and its function, how these organisms interact with each other and with the surrounding environment. The word biology in Greek is made up of two words: bio (βίος) meaning life. And loggia (-λογία) means science or study. Biology: the similarity of vegetation and animal cover on the edges of the African and American states, and the existence of the same fossil.


Branches of biology
Biology is an ancient science thousands of years old and modern biology began in the nineteenth century. This science has multiple branches. Among them are:

Anatomy
Botany
Biochemia
Biogeography
Biofisia
Cytology or cell science
Ecology or environmental science

 

 

نبذه عن الكتاب:

moving toward a molecular definition of these disorders, in the clinical context
it is generally of limited value in only a small number of defined situations.
Even when a disease gene has been identified, the types of mutation(s) encountered in a specific disease influence the practical availability of genetic testing
(Table 2). For example, in myotonic dystrophy a single type of mutation (triplet-repeat expansion) is present in most affected individuals. Most patients with
facioscapulohumeral MD can be shown to carry a DNA deletion, variable in
size, but detectable using a single DNA probe (see Chap. 18). In both of these
disorders, therefore, a relatively straightforward analysis can be employed to
identify the majority of affected individuals, although in neither case is the
molecular pathology of the disease understood. In the dystrophinopathies,
the predominance of a particular type of mutation (intragenic deletion) simplifies the analysis in the majority of families (see Chap. 6). The continued need
to apply a range of different tests, to provide as complete an answer as possible
to the questions of carrier testing and prenatal diagnosis in these conditions
means that, although such testing is widely available, it may remain complex
(Chaps. 19 to 23). In other disorders, e.g., the limb-girdle muscular dystrophies
(4), a range of point mutations have been described

Biology
Human biology
Who is the founder of biology?
The importance of biology
Areas of work in the field of biology
Theories of biology
Research on biology for the first grade of secondary school
Human biology

 



سنة النشر : 2001م / 1422هـ .
حجم الكتاب عند التحميل : 2.305 .
نوع الكتاب : pdf.
عداد القراءة: عدد قراءة Muscular Dystrophy. Methods and Protocols-Humana Press

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المؤلف:
Katherine M. D. Bushby Louise V. B. Anderson -

كتب Katherine M. D. Bushby
Louise V. B. Anderson ❰ له مجموعة من الإنجازات والمؤلفات أبرزها ❞ Muscular Dystrophy. Methods and Protocols-Humana Press ❝ ❱. المزيد..

كتب Katherine M. D. Bushby Louise V. B. Anderson