A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.
about
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.Perrault syndrome type 3 caused by diverse molecular defects in CLPP
P2860
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 18 April 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A Novel Missense Mutation in t ...... me Type 3 in a Turkish Family.
@en
A Novel Missense Mutation in t ...... me Type 3 in a Turkish Family.
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type
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A Novel Missense Mutation in t ...... me Type 3 in a Turkish Family.
@en
A Novel Missense Mutation in t ...... me Type 3 in a Turkish Family.
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prefLabel
A Novel Missense Mutation in t ...... me Type 3 in a Turkish Family.
@en
A Novel Missense Mutation in t ...... me Type 3 in a Turkish Family.
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P2093
P2860
P356
P1476
A Novel Missense Mutation in t ...... ome Type 3 in a Turkish Family
@en
P2093
Fatma Dursun
Heves Kırmızıbekmez
Hussein Sheikh Ali Mohamoud
Noreen Karim
P2860
P304
P356
10.4274/JCRPE.2717
P577
2016-04-18T00:00:00Z