Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia

European Journal of Medical Genetics

Volumn 51, Issue 6, 2008, Pages 558-565

  Kaya, Namik ^a   Al Owain, Mohammad ^a   AlBakheet, AlBandary ^a   Colak, Dilek ^a   Al Odaib, Ali ^a   Imtiaz, Faiqa ^a   Coskun, Serdar ^a   Al Sayed, Moeenaldeen ^a   Al Hassnan, Zuhair ^a   Al Zaidan, Hamad ^a   Meyer, Brian ^a   Ozand, Pinar ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

73 kb Deletion; 18 bp Intronic insertion; aCGH; PCCA; Propionic acidemia

Indexed keywords

PROPIONYL COENZYME A CARBOXYLASE;

ALPHA CHAIN; ARTICLE; BETA CHAIN; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE INSERTION; GENE SEQUENCE; HUMAN; INTRON; MALE; MASS FRAGMENTOGRAPHY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROPIONIC ACIDEMIA;

CHILD; CHILD, PRESCHOOL; FEMALE; GENE DELETION; HUMANS; MALE; METABOLISM, INBORN ERRORS; NUCLEIC ACID HYBRIDIZATION; POLYMERASE CHAIN REACTION; PROPIONIC ACIDS; SAUDI ARABIA;

EID: 56649085111     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.08.001     Document Type: Article

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