Personalized biophysics of human PGM1 deficiency
نویسندگان
چکیده
منابع مشابه
Personalized Biochemistry and Biophysics
Whole human genome sequencing of individuals is becoming rapid and inexpensive, enabling new strategies for using personal genome information to help diagnose, treat, and even prevent human disorders for which genetic variations are causative or are known to be risk factors. Many of the exploding number of newly discovered genetic variations alter the structure, function, dynamics, stability, a...
متن کاملMapping recombination hotspots in human phosphoglucomutase (PGM1).
Human phosphoglucomutase (PGM1) is a highly poly-morphic protein. Three mutations and four intragenic recombination events between the three mutation sites generate eight protein variants including the four universally common alleles, 1+, 1 -, 2+ and 2 -, and four others that are polymorphic in some Oriental populations, 3+, 3-, 7+ and 7-. The mutations 3/7, 2/1 and +/-are in exons 1A, 4 and 8,...
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ژورنال
عنوان ژورنال: Acta Crystallographica Section A Foundations and Advances
سال: 2017
ISSN: 2053-2733
DOI: 10.1107/s0108767317098348