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  4. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Details

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Journal
Journal of Medical Genetics
ISSN
0022-2593
1468-6244
Date Issued
2012
Author(s)
Hanan E Shamseldin
Muneera Alshammari
Tarfa Al-Sheddi
Mustafa A Salih
Hisham Alkhalidi
Amal Kentab
REPETTO LISBOA, MARIA GABRIELA  
Facultad de Medicina ClĂ­nica Alemana Universidad del Desarrollo  
Mais Hashem
Fowzan S Alkuraya
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-84864112680
WoS ID
WOS:000302789800003
DOI
10.1136/jmedgenet-2012-100836
URL
https://investigadores.udd.cl/handle/123456789/9314
URL Institutional Repository
http://hdl.handle.net/11447/1343
Subjects
transfer-rna-synthetase

; 

complex i deficiency

; 

peroxisomal fission

; 

recessive mutations

; 

mammalian-cells

; 

disorders

; 

cardiomyopathy

; 

children

; 

acad9

; 

mff
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