Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

Human Mutation

Volumn 30, Issue 3, 2009, Pages

  Menao, Sebastián ^a   López Viñas, Eduardo ^b,i   Mir, Cecilia ^c   Puisac, Beatriz ^a   Gratacós, Esther ^c   Arnedo, María ^a   Carrasco, Patricia ^c   Moreno, Susana ^a   Ramos, Mónica ^a   Gil, María Concepción ^a   Pié, Ángeles ^a   Ribes, Antonia ^d   Pérez Cerda, Celia ^e   Ugarte, Magdalena ^e   Clayton, Peter T ^f   Korman, Stanley H ^g   Serra, Dolors ^h,i   Asins, Guillermina ^h,i   Ramos, Feliciano J ^a   Gómez Puertas, Paulino ^b,i   Hegardt, Fausto G ^h,i   Casals, Nuria ^c   Pié, Juan ^a,j   more..

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^c UNIVERSITAT INTERNACIONAL DE CATALUNYA   (Spain)

^d HOSPITAL CLÍNIC   (Spain)

^e UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^h UNIVERSITY OF BARCELONA   (Spain)

ⁱ Instituto de Salud Carlos III   (Spain)

^j UNIVERSITY OF ZARAGOZA   (Spain)

more..

Author keywords

3 Hydroxy 3 methylglutaric aciduria; HMG CoA lyase; HMGCL; Ketone bodies; Mutations

Indexed keywords

ADENINE; CYTOSINE; GUANINE; TYROSINE;

3 HYDROXY 3 METHYLGLUTARIC ACIDURIA; ACIDURIA; ARTICLE; CHILD; CLINICAL ARTICLE; ECUADOR; ENZYME ACTIVITY; ETHNICITY; FETUS; GENE DELETION; GENE FUNCTION; GENETIC ANALYSIS; GENOTYPE; HMGCL GENE; HUMAN; HUMAN GENOME; INTRON; MISSENSE MUTATION; NONSENSE MUTATION; PAKISTAN; PALESTINE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SPAIN;

ALLELES; AMINO ACID SEQUENCE; ARABS; CATALYTIC DOMAIN; DNA MUTATIONAL ANALYSIS; ECUADOR; EUROPE; GENE FREQUENCY; GENOTYPE; HUMANS; KINETICS; MEGLUTOL; METABOLISM, INBORN ERRORS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; OXO-ACID-LYASES; PAKISTAN; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 61649100744     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20966     Document Type: Article

References (32)

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