Zobrazeno 1 - 3
of 3
pro vyhledávání: '"T. B. Munce"'
Publikováno v:
Journal of Intellectual Disability Research. 54:929-937
Background: Current genotype-phenotype correlations in Prader-Willi syndrome (PWS) are struggling to give an explanation of the diversity in phenotype and there is a need to move towards a molecular understanding of PWS. A range of functions related
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ed9fd63b997d134b7719be49588ba1e
https://doi.org/10.1111/j.1365-2788.2010.01323.x
https://doi.org/10.1111/j.1365-2788.2010.01323.x
Publikováno v:
Advances in experimental medicine and biology. 614
It is a widely held paradigm in molecular biology that a change in the third base of a codon is silent in terms of expression. In this investigation, results are presented that challenge that paradigm, at least in terms of one polymorphism in KCNJ11,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b35f01d0e9a154e4eac0e253c3bc6384
https://pubmed.ncbi.nlm.nih.gov/18290324
https://pubmed.ncbi.nlm.nih.gov/18290324
Autor:
T. B. Munce, F. G. Bowling
Publikováno v:
Journal of Intellectual Disability Research. 52:812-812
Background: Prader-Willi syndrome (PWS) is a contiguous gene disorder characterized by a range of neurological and endocrine abnormalities. Genetically, PWS arises from a loss of paternal chromosome 15q11-q13 with associated maternal imprinting of ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93cf97cf4d7a8cdd6d946bbc54c8f139
https://doi.org/10.1111/j.1365-2788.2008.01119_2.x
https://doi.org/10.1111/j.1365-2788.2008.01119_2.x