A SEARCH FOR AUTOSOMAL RECESSIVE LETHALS IN MAN
نویسندگان
چکیده
منابع مشابه
Mendelian Inheritance in Man, Catalogues of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes
much better for the author to have selected fewer topics for inclusion in the book, and to have given each one a more thorough treatment. Other subjects which are scantily covered include evidence for a myopia gene, existence of an alcoholism gene, genetic transmission of psychotic tendency, relation of creativity to the schizophrenia gene, and inherited personality and creative aptitude. As ca...
متن کاملMendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. 9th Edition
This catalog, known as MIM, has been a vade mecum for geneticists since the first edition was published in 1966. Now in its ninth edition, it includes much new information. In the 1,545 pages of catalog are listed the recognized single-gene disorders and traits organized by mode of inheritance, along with descriptions, references, and the catalog or MIM number, a number unique to each locus. It...
متن کاملMendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes
chapter, presentation consists of an unabating recitation in chronological order of the salient points from each one of the cited references. Unbearable repetition, absence of a logical flow of ideas and difficulty extracting the most significant concepts results. The autlhor provides essentially no integration or summarization of h1is material. Critical analysis of the data and conclusions are...
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Paul Dudley White (1886-1973) was among the most eminent cardiologists in the United States during his lifetime, and his role as a major consultant at the time of President Eisenhower's heart attack was particularly well known. Dr. Oglesby Paul describes Dr. White as one of those "practicing doctors whose lives have had a profound influence on millions of people." By writing the first biography...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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ژورنال
عنوان ژورنال: Annals of Eugenics
سال: 1938
ISSN: 2050-1420
DOI: 10.1111/j.1469-1809.1938.tb02178.x