Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

Microphthalmia with linear skin lesions (MLS) is an X-linked dominant male-lethal disorder associated with mutations in holocytochrome c-type synthase (HCCS), which encodes a crucial player of the mitochondrial respiratory chain (MRC). Unlike other mitochondrial diseases, MLS is characterized by a w...

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Sonraí Bibleagrafaíochta
Main Authors: Indrieri, Alessia, van Rahden, Vanessa Alexandra, Tiranti, Valeria, Morleo, Manuela, Iaconis, Daniela, Tammaro, Roberta, D’Amato, Ilaria, Conte, Ivan, Maystadt, Isabelle, Demuth, Stephanie, Zvulunov, Alex, Kutsche, Kerstin, Zeviani, Massimo, Franco, Brunella
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2012
Ábhair:
Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3487127/
https://ncbi.nlm.nih.gov/pubmed/23122588
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.09.016
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