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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1998
Soggetti:
Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377045/
https://ncbi.nlm.nih.gov/pubmed/9529364
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi