A novel homeobox gene PITX3 is mutated in families with autosomal- dominant cataracts and ASMD

Nature Genetics

Volumn 19, Issue 2, 1998, Pages 167-170

  Semina, Elena V ^a   Ferrell, Robert E ^c   Mintz Hittner, Helen A ^d   Bitoun, Pierre ^e   Alward, Wallace Lee M ^b   Reiter, Rebecca S ^b   Funkhauser, Carrie ^a   Daack Hirsch, Sandra ^a   Murray, Jeffrey C ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^e HÔPITAL JEAN VERDIER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CODON; CONGENITAL CATARACT; DISEASE ASSOCIATION; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; HOMEOBOX; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RIEGER SYNDROME; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; ANTERIOR EYE SEGMENT; BASE SEQUENCE; CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; EXONS; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE; SYNDROME; TRANSCRIPTION FACTORS;

MAMMALIA;

EID: 0031811116     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/527     Document Type: Article

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