» » Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes

Download Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes fb2

by Dr. Victor A. McKusick MD
Download Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes fb2
Medicine & Health Sciences
  • Author:
    Dr. Victor A. McKusick MD
  • ISBN:
    0801836913
  • ISBN13:
    978-0801836916
  • Genre:
  • Publisher:
    The Johns Hopkins University Press; 8th edition (June 1, 1988)
  • Pages:
    1742 pages
  • Subcategory:
    Medicine & Health Sciences
  • Language:
  • FB2 format
    1654 kb
  • ePUB format
    1114 kb
  • DJVU format
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  • Rating:
    4.6
  • Votes:
    310
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McKusick, Victor A. (Victor Almon), 1921-.

McKusick, Victor A. Baltimore, Johns Hopkins University Press. WorldCat (this item).

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published a book, Mendelian Inheritance in Man: Catalogs. and no mapped autosomal loci. Each catalogue contained. summaries of genetic phenotypes reported in the biomedi-. cal literature, which were organized into numbered entries. with descriptive synopses and references. MPS IIIA is inherited in an autosomal recessive manner and is caused by a deficiency in the lysosomal enzyme sulfamidase, which is required for the degradation of heparan sulfate. The sulfamidase is produced by the N-sulphoglucosamine sulphohydrolase (SGSH) gene.

Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. McKusick, V. A. Mendelian Inheritance in Man.

Mendelian Inheritance in Man book. Goodreads helps you keep track of books you want to read

Mendelian Inheritance in Man book. Goodreads helps you keep track of books you want to read.

This book provides a catalog of dominant phenotypes and covers other entries, including anomalous hemoglobin, red cell antigenic types, leukocyte types, and serum protein types.

Read unlimited books and audiobooks on the web, iPad, iPhone and Android. This book provides a catalog of dominant phenotypes and covers other entries, including anomalous hemoglobin, red cell antigenic types, leukocyte types, and serum protein types. This book begins with an overview of how to use the catalogs wherein two classes of entries have been made in each of the catalogs. This text then explains that each entry consists of three parts, namely, the preferred designation, a brief description of the phenotype with genetic information, and key references. This text then explains that each entry consists of three parts, namely, the preferred designation, a brief description of the phenotype with genetic information, and key references

Book Publishing WeChat. In general, this association of multiple disparate malformations in an autosomal recessive condition may be expected to throw light on important aspects of gene action in embryogenesis.

Book Publishing WeChat. An aspect of medical genetics, which has become important with respect to the condition, is antenatal diagnosis with the prospect of abortion of affected fetuses.

Online Mendelian inheritance in man reprints the very current (thru March ^92!) data here

Online Mendelian inheritance in man reprints the very current (thru March ^92!) data here.