Výsledky vyhledávání - "Pequignot, E V"

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

Autor: Bürglen, L, Seroz, T, Miniou, P, Lefebvre, S, Burlet, P, Munnich, A, Pequignot, E V, Egly, J M, Melki, J

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 t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c30a169b27ec4ecc50943919f85fb295
https://europepmc.org/articles/PMC1712562/

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Akademický článek

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

Autor: Bürglen L; Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM, Unité 393, Paris, France., Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, Egly JM, Melki J

Publikováno v: American journal of human genetics [Am J Hum Genet] 1997 Jan; Vol. 60 (1), pp. 72-9.

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Akademický článek

Localization of gamma-rays induced chromatid breaks using a three consecutive staining technique.

Autor: Dubos C, Pequignot EV, Dutrillaux B

Publikováno v: Mutation research [Mutat Res] 1978 Jan; Vol. 49 (1), pp. 127-31.

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