Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

Galmiche, Louise

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. [electronic resource] - Human mutation Nov 2011 - 1225-31 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.21562 doi


Base Sequence
Cardiomyopathy, Hypertrophic--genetics
DNA Mutational Analysis
DNA, Mitochondrial--chemistry
Exome
Female
Humans
Infant
Infant, Newborn
Male
Mitochondria--metabolism
Mitochondrial Diseases--genetics
Mitochondrial Proteins--genetics
Molecular Sequence Data
Mutation
Ribosomal Proteins--genetics
Sequence Deletion