Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type

Human Mutation

Volumn 31, Issue 9, 2010, Pages 1033-1042

  Jorge Finnigan, Ana ^a,b   Aguado, Cristina ^a,b,d   Sánchez Alcudia, Rocio ^a,b   Abia, David ^a   Richard, Eva ^a,b   Merinero, Begoña ^a,b   Gámez, Alejandra ^a,b   Banerjee, Ruma ^c   Desviat, Lourdes R ^a,b   Ugarte, Magdalena ^a,b   Pérez, Belen ^a,b  

^a CSIC   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^d UNIVERSITAT POMPEU FABRA   (Spain)

Author keywords

ATR; Cobalamin; Methylmalonic aciduria cblB type; Misfolding; MMAB; Splicing

Indexed keywords

MUTANT PROTEIN; OLIGOMER;

ALLELE; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; EUKARYOTE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; METHYLMALONIC ACIDURIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROKARYOTE; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN STABILITY; PROTEIN STRUCTURE; RNA SPLICING; WILD TYPE;

ALKYL AND ARYL TRANSFERASES; AMINO ACID METABOLISM, INBORN ERRORS; CELL LINE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOME, HUMAN; HUMANS; INFANT; INFANT, NEWBORN; KINETICS; MUTANT PROTEINS; MUTATION; MUTATION, MISSENSE; PROTEIN STRUCTURE, QUATERNARY; PROTEIN STRUCTURE, SECONDARY; RNA SPLICING; TIME FACTORS;

EUKARYOTA; PROKARYOTA;

EID: 77956297615     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21307     Document Type: Article

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