Učitavanje...

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

In several individuals with a Charcot–Marie–Tooth (CMT) phenotype, we found a copy number variation (CNV) on chromosome 17p12 in the direct vicinity of the peripheral myelin protein 22 (PMP22) gene. The exact borders and size of this CNV were determined by Southern blot analysis, MLPA, vectorette PC...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Weterman, Marian AJ, van Ruissen, Fred, de Wissel, Marit, Bordewijk, Lou, Samijn, Johnny PA, van der Pol, W Ludo, Meggouh, Farid, Baas, Frank
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2010
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987248/
https://ncbi.nlm.nih.gov/pubmed/19888301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.186
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!