The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.

Mutations of the survival motor neurone gene (SMN) are associated with spinal muscular atrophy (SMA), a frequent lethal autosomal recessive disorder. In spite of this, no phenotype-genotype correlation was observed, since the SMN gene is lacking in the majority of patients affected with either the s...

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Detalhes bibliográficos
Main Authors: Bürglen, L, Seroz, T, Miniou, P, Lefebvre, S, Burlet, P, Munnich, A, Pequignot, E V, Egly, J M, Melki, J
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712562/
https://ncbi.nlm.nih.gov/pubmed/8981949
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