Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

Human Genetics

Volumn 101, Issue 1, 1997, Pages 93-96

  Richard, Eva ^a   Desviat, Lourdes R ^a   Pérez, Belén ^a   Pérez Cerdá, Celia ^a   Ugarte, Magdalena ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; PROPIONYL COENZYME A CARBOXYLASE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONSENSUS SEQUENCE; CONTROLLED STUDY; EXON; FIBROBLAST CULTURE; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; CARBOXY-LYASES; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; GENOTYPE; HUMANS; METHYLMALONYL-COA DECARBOXYLASE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PROPIONIC ACIDS; RNA SPLICING;

EID: 0031470920     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050593     Document Type: Article

References (19)

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