Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)

Human Genetics

Volumn 103, Issue 2, 1998, Pages 149-153

  Devriendt, Koenraad ^a   Matthijs, Gert ^a   Van Damme, Boudewijn ^a   Van Caesbroeck, Daniel ^b   Eccles, Michael ^c   Vanrenterghem, Yves ^a   Fryns, Jean Pierre ^a   Leys, Anita ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b Algemeen Ziekenhuis St Jozef   (Belgium)

^c UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COLOBOMA; FAMILY STUDY; FEMALE; GENE DUPLICATION; HUMAN; KIDNEY FAILURE; KIDNEY HYPOPLASIA; MALE; MISSENSE MUTATION; OPTIC DISK; PRIORITY JOURNAL; PROTEIN FOLDING; VESICOURETERAL REFLUX;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; COLOBOMA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENE DUPLICATION; HUMANS; KIDNEY; KIDNEY FAILURE; MALE; MUTATION, MISSENSE; OPTIC DISK; PAX2 TRANSCRIPTION FACTOR; PEDIGREE; RETINAL VESSELS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0031685058     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050798     Document Type: Article

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