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-Reference-Cited by-同舟云学术

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

Published:2015-06 Issue:1-2 Volume:353 Page:149-154
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

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

Funder

Deanship of Scientific Research (DSR), King Abdulaziz University, Jeddah

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference21 articles.

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4. Neurologic anomalies of Perrault syndrome;Gottschalk;Am J Med Genet,1996

5. Genotype and phenotype heterogeneity in Perrault syndrome;Kim;J Pediatr Adolesc Gynecol,2013

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