Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.

Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor (WT). Most mutati...

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Autors principals: Jeanpierre, C, Denamur, E, Henry, I, Cabanis, M O, Luce, S, Cécille, A, Elion, J, Peuchmaur, M, Loirat, C, Niaudet, P, Gubler, M C, Junien, C
Format: Artigo
Idioma:Inglês
Publicat: 1998
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377045/
https://ncbi.nlm.nih.gov/pubmed/9529364
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