TY  - GEN
AU  - Lebon,Sophie
AU  - Minai,Limor
AU  - Chretien,Dominique
AU  - Corcos,Johanna
AU  - Serre,Valérie
AU  - Kadhom,Noman
AU  - Steffann,Julie
AU  - Pauchard,Jean-Yves
AU  - Munnich,Arnold
AU  - Bonnefont,Jean-Paul
AU  - Rötig,Agnès
TI  - A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome
SN  - 1096-7192
PY  - 2007///1129
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - Electron Transport Complex I
KW  - deficiency
KW  - Exons
KW  - genetics
KW  - Female
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Leigh Disease
KW  - Male
KW  - Mitochondria
KW  - Molecular Sequence Data
KW  - Mutation
KW  - NADH Dehydrogenase
KW  - Pedigree
KW  - RNA Splicing
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2007.05.010
ER  -