Renal-coloboma syndrome: A single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype

Clinical Nephrology

Volumn 67, Issue 1, 2007, Pages 1-4

  Taranta, A ^a   Palma, A ^a   De Luca, V ^a   Romanzo, A ^a   Massella, L ^a   Emma, F ^a   Dello Strologo, L ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Horse; Mutation; Neural coloboma; PAX2; Renal hypodysplasia; Shoe kidney

Indexed keywords

TRANSCRIPTION FACTOR PAX2;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; EXON; EYE MALFORMATION; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HORSESHOE KIDNEY; HUMAN; KIDNEY FAILURE; KIDNEY HYPOPLASIA; KIDNEY MALFORMATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPTIC NERVE DISEASE; PATHOGENESIS; PHENOTYPE; PROTEIN DOMAIN; RENAL COLOBOMA SYNDROME; TRANSACTIVATION;

EID: 33847284574     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CNP67001     Document Type: Article

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