By Jack J. Pasternak
An creation to Human Molecular GeneticsSecond EditionJack J. PasternakThe moment variation of this across the world acclaimed textual content expands its assurance of the molecular genetics of inherited human ailments with the most recent learn findings and discoveries. utilizing a distinct, systems-based method, the textual content bargains readers a radical clarification of the gene discovery method and the way faulty genes are associated with inherited affliction states in significant organ and tissue structures. all of the newest advancements in useful genomics, proteomics, and microarray know-how were completely integrated into the text.The first a part of the textual content introduces readers to the basics of cytogenetics and Mendelian genetics. subsequent, suggestions and methods for gene manipulation, mapping, and isolation are tested. Readers will quite take pleasure in the text's tremendously thorough and transparent rationalization of genetic mapping. the ultimate half positive factors particular assurance of the molecular genetics of special organic structures, overlaying muscle, neurological, eye, melanoma, and mitochondrial issues. through the textual content, invaluable figures and diagrams illustrate and make clear complicated material.Readers accustomed to the 1st variation will realize the text's related lucid and interesting variety, and may discover a wealth of recent and accelerated fabric that brings them totally brand new with a present figuring out of the sector, including:* New chapters on advanced genetic problems, genomic imprinting, and human inhabitants genetics* elevated and entirely revised part on scientific genetics, masking diagnostic trying out, molecular screening, and diverse treatmentsThis textual content is concentrated at upper-level undergraduate scholars, graduate scholars, and clinical scholars. it's also an exceptional reference for researchers and physicians who want a clinically suitable reference for the molecular genetics of inherited human illnesses.
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Extra resources for An introduction to human molecular genetics: mechanisms of inherited diseases
The fundamental problem was that little was known about the molecular relationship between the unit of inheritance (gene) and its product, a protein chain. Within a short period of time, the structure of DNA was determined, a single amino acid change in a protein chain was shown to be sufﬁcient to cause an inherited human disease, and the process by which the encoded information within a gene is used to produce the speciﬁc sequence of amino acids of a protein was understood. This research momentum has continued.
R e v i e w of the draft version of the human genome sequence in 2001. This resource, which is continually updated, has streamlined human gene discovery. In addition, the characterization of disease-causing genes leads to defectivegene detection assays and more effective treatments for genetic diseases. , O. Temkin, and W. L. Strauss, Jr. ). 1968. Forerunners of Darwin: 1745–1859. Johns Hopkins Press, Baltimore, MD. Hubbard, R. and E. Wald. 1993. Exploding the Genetic Myth: How Genetic Information is Produced and Manipulated by Scientists, Physicians, Employers, Insurance Companies, Educators, and Law Enforcers.
Gilles Blaizot, Paris. ] Dunn, L. C. ). 1951. Genetics in the Twentieth Century: Essays on the Progress of Genetics during its First 50 years. Macmillan, New York. Garrod, A. E. 1902. The incidence of alkaptonuria: A study in chemical individuality. Lancet ii:1616–1620. r e v i e w of the draft version of the human genome sequence in 2001. This resource, which is continually updated, has streamlined human gene discovery. In addition, the characterization of disease-causing genes leads to defectivegene detection assays and more effective treatments for genetic diseases.
An introduction to human molecular genetics: mechanisms of inherited diseases by Jack J. Pasternak