Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.

Published on IRCCS materno infantile Burlo Garofolo (https://www.burlo.trieste.it)

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. [1]

Titolo	Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
Publication Type	Journal Article
Authors	Bianco, AMonica [2], Faletra, F [3], Vozzi, D [4], Girardelli, M [5], Knowles, A [6], Tommasini, A [7], Zauli, G [8], Marcuzzi, A [9]
PubMed ID	26300074 [10]

Source URL: https://www.burlo.trieste.it/ricerca/pubblicazioni/two-gene-mutation-single-patient-biochemical-and-functional-analysis-correct-interpretation-exome-results#comment-0

Collegamenti
[1] https://www.burlo.trieste.it/ricerca/pubblicazioni/two-gene-mutation-single-patient-biochemical-and-functional-analysis-correct-interpretation-exome-results
[2] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=697
[3] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=407
[4] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=2268
[5] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=1676
[6] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=1142
[7] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=89
[8] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=104
[9] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=36
[10] http://www.ncbi.nlm.nih.gov/pubmed/26300074?dopt=Abstract