Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Ahmed, Saleem ; Jelani, Musharraf ; Alrayes, Nuha ; Mohamoud, Hussein Sheikh Ali ; Almramhi, Mona Mohammad ; Anshasi, Wasim ; Ahmed, Naushad Ali Basheer ; Wang, Jun ; Nasir, Jamal ; Al-Aama, Jumana Yousuf

Journal of the neurological sciences, 2015-06, Vol.353 (1), p.149-154 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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