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

Implications of Molecular and Morphological Data for Understanding Ateline Phylogeny.

Autor: Hartwig, Walter¹ whartwig@touro.edu

Publikováno v: International Journal of Primatology. Oct2005, Vol. 26 Issue 5, p999-1015. 17p. 2 Color Photographs, 1 Black and White Photograph, 1 Graph.

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Akademický článek

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.

Autor: Vitali, Tiziana, Sossi, Vittorio, Tiziano, Francesco, Zappata, Stefania, Giuli, Anna, Paravatou-Petsotas, Maria, Neri, Giovanni, Brahe, Christina

Publikováno v: Human Molecular Genetics; Dec99, Vol. 8 Issue 13, p2525, 8p, 8 Black and White Photographs, 2 Diagrams, 2 Charts

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