Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants
نویسندگان
چکیده
منابع مشابه
Genetic and Phenotypic Variation for Flowering Time Genes in Barley (Hordeum vulgare)
Objective: Flowering Time (FT) in cereals controlled by genes that had a main factor on plant development. Methods: Genetic and phenotypic diversity of four flowering time genes (FT2, FT3, FT4, Ppd-H1) in 19 genotypes of cultivated and wild barley was evaluated and a total of 107 alleles were amplified. Genotypes based on days to flowering time and molecular data were grouped into earl...
متن کاملMolecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD). More recently, recessive RYR1 mutations have been described in few congenital myopathy patients with variable pathology, including multi-minicores. Although a clinical overlap between patients with dominant and re...
متن کاملGenetic and Phenotypic Variation for Flowering Time Genes in Barley (Hordeum vulgare)
Objective: Flowering Time (FT) in cereals controlled by genes that had a main factor on plant development. Methods: Genetic and phenotypic diversity of four flowering time genes (FT2, FT3, FT4, Ppd-H1) in 19 genotypes of cultivated and wild barley was evaluated and a total of 107 alleles were amplified. Genotypes based on days to flowering time and molecular data were grouped into earl...
متن کامل: metadiscourse in introduction sections of applied linguistics and physics research articles: exploring variation in frequency and type
abstract in written mode of language, metadiscourse markers are used commonly to help writers in general and academic writers in particular to produce coherent and professional texts. the purpose of the present study was to compare introduction sections of applied linguistics and physics articles regarding their use of interactive and interactional metadiscourse markers based on the model pro...
15 صفحه اولpassivity in waiting for godot and endgame: a psychoanalytic reading
this study intends to investigate samuel beckett’s waiting for godot and endgame under the lacanian psychoanalysis. it begins by explaining the most important concepts of lacanian psychoanalysis. the beckettian characters are studied regarding their state of unconscious, and not the state of consciousness as is common in most beckett studies. according to lacan, language plays the sole role in ...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2010
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-010-0901-9