The mouse Pax21Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

Proceedings of the National Academy of Sciences of the United States of America

Volumn 93, Issue 24, 1996, Pages 13870-13875

  Favor, Jack ^a   Sandulache, Rodica ^a   Neuhäuser Klaus, Angelika ^a   Pretsch, Walter ^a   Chatterjee, Bimal ^a   Senft, Elfriede ^a   Wurst, Wolfgang ^a   Blanquet, Véronique ^a   Grimes, Patricia ^b   Spörle, Ralf ^a   Schughart, Klaus ^a  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL TISSUE; BRAIN MALFORMATION; COLOBOMA; CONFERENCE PAPER; CONTROLLED STUDY; DROSOPHILA; EAR MALFORMATION; EMBRYO; EYE MALFORMATION; FRAMESHIFT MUTATION; GENE INSERTION; GENETIC CONSERVATION; KIDNEY MALFORMATION; MESENCEPHALON; MOUSE; NONHUMAN; OPTIC NERVE; PRIORITY JOURNAL; RHOMBENCEPHALON;

ABNORMALITIES, MULTIPLE; ANIMALS; BASE SEQUENCE; BRAIN; COLOBOMA; CROSSES, GENETIC; DNA PRIMERS; DNA-BINDING PROTEINS; EAR; EMBRYONIC AND FETAL DEVELOPMENT; EYE ABNORMALITIES; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; KIDNEY; MICE; MICE, INBRED STRAINS; MOLECULAR SEQUENCE DATA; PAX2 TRANSCRIPTION FACTOR; PHENOTYPE; POLYMERASE CHAIN REACTION; RECOMBINATION, GENETIC; SYNDROME; TRANSCRIPTION FACTORS;

ANIMALIA; GENETTA; VERTEBRATA;

EID: 0030447981     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.93.24.13870     Document Type: Article

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