Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6-Reference-Cited by-同舟云学术

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Published:2016-07-27 Issue:18 Volume:25 Page:4062-4079
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Hartmannová Hana,Piherová Lenka,Tauchmannová Kateřina,Kidd Kendrah,Acott Philip D.,Crocker John F. S.,Oussedik Youcef,Mallet Marcel,Hodaňová Kateřina,Stránecký Viktor,Přistoupilová Anna,Barešová Veronika,Jedličková Ivana,Živná Martina,Sovová Jana,Hůlková Helena,Robins Vicki,Vrbacký Marek,Pecina Petr,Kaplanová Vilma,Houštěk Josef,Mráček Tomáš,Thibeault Yves,Bleyer Anthony J.,Kmoch Stanislav

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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