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Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

BACKGROUND: Purine-rich element binding protein A (PURA, MIM 600473), is considered the crucial phenocritical gene for an emerging 5q31.3 microdeletion syndrome. To date, at least seven affected individuals with overlapping 5q31.2q31.3 deletions, varying in size from 2.6 to 5 Mb, have been reported...

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Dettagli Bibliografici
Pubblicato in:Mol Cytogenet
Autori principali: Bonaglia, Maria Clara, Zanotta, Nicoletta, Giorda, Roberto, D’Angelo, Grazia, Zucca, Claudio
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4650292/
https://ncbi.nlm.nih.gov/pubmed/26582469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0193-9
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