Name: Peroxisomal Disorders and Regulation of Genes (en Inglés)
SKU: 58146380
Price: 160750.00 CLP
Availability: InStock
Author: Roels, Frank ; Baes, Myriam ; Delanghe, Sylvia
ISBN: 9781461347828

portada Peroxisomal Disorders and Regulation of Genes (en Inglés)

Peroxisomal Disorders and Regulation of Genes (en Inglés)

Formato

Libro Físico

Editorial

Springer

Autor

Roels, Frank ; Baes, Myriam ; Delanghe, Sylvia

Idioma

Inglés

N° páginas

429

Encuadernación

Tapa Blanda

Dimensiones

25.4x17.8x2.3 cm

Peso

0.77 kg.

ISBN13

9781461347828

Categorías

Metabolismo
Genética médica
Endocrinología

Peroxisomal Disorders and Regulation of Genes (en Inglés)

Roels, Frank ; Baes, Myriam ; Delanghe, Sylvia (Autor) · Springer · Tapa Blanda

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Reseña del libro "Peroxisomal Disorders and Regulation of Genes (en Inglés)"

In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.