A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia

Human Genetics

Volumn 116, Issue 1-2, 2005, Pages 114-120

  Canizales Quinteros, Samuel ^a   Aguilar Salinas, Carlos A ^b   Huertas Vázquez, Adriana ^a   Ordóñez Sánchez, María L ^b   Rodríguez Torres, Maribel ^a   Venturas Gallegos, José L ^c   Riba, Laura ^a   Ramírez Jimenez, Salvador ^a   Salas Montiel, Rocío ^a   Medina Palacios, Giovani ^a   Robles Osorio, Ludivina ^b   Miliar García, Angel ^d   Rosales León, Luis ^a   Ruiz Ordaz, Blanca H ^a   Zentella Dehesa, Alejandro ^c   Ferré D'Amare, Adrian ^e   Gómez Pérez, Francisco J ^b   Tusié Luna, Ma Teresa ^a  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b Institute Nacl de Ciencias Med   (Mexico)

^c INSTITUTO DE FISIOLOGÍA CELULAR   (Mexico)

^d INSTITUTO POLITÉCNICO NACIONAL   (Mexico)

^e Fred Hutchinson Cancer Research Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; AMINO ACID; GUANINE; MESSENGER RNA; MUTANT PROTEIN; NUCLEOTIDE; RECEPTOR PROTEIN; THYMINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY STUDY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MEXICO; PARENT; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; RNA TRANSLATION; SEQUENCE ANALYSIS; SIBLING;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AMINO ACID SEQUENCE; CONSANGUINITY; FEMALE; GENES, RECESSIVE; HUMANS; HYPERCHOLESTEROLEMIA; MALE; MEXICO; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES; XANTHOMATOSIS;

EID: 19944430011     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1192-9     Document Type: Article

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