The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other types of mutations; the cause of this variability is unknown. We evaluated genotype-phenotype correlations, with particular focus on the location...

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Hlavní autoři: Baser, M, Kuramoto, L, Woods, R, Joe, H, Friedman, J, Wallace, A, Ramsden, R, Olschwang, S, Bijlsma, E, Kalamarides, M, Papi, L, Kato, R, Carroll, J, Lazaro, C, Joncourt, F, Parry, D, Rouleau, G, Evans, D
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2005
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736092/
https://ncbi.nlm.nih.gov/pubmed/15994874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.029504
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