Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

American Journal of Human Genetics

Volumn 82, Issue 5, 2008, Pages 1217-1222

  Abu, Almogit ^a,b   Frydman, Moshe ^a,d   Marek, Dina ^a,d   Pras, Eran ^c,d   Nir, Uri ^b   Reznik Wolf, Haike ^a   Pras, Elon ^a,d  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b BAR ILAN UNIVERSITY   (Israel)

^c ASSAF HAROFEH MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ARAB; ARTICLE; BRITTLE CORNEA SYNDROME; CHROMOSOME 16Q24; CONNECTIVE TISSUE; CORNEA DISEASE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; HAPLOTYPE; HUMAN; HUMAN CHROMOSOME; HUMAN GENOME; INBREEDING; JEW; MOLECULAR CLONING; PRIORITY JOURNAL; ZINC FINGER 469 GENE;

CORNEAL DISEASES; FIBRILLAR COLLAGENS; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PEDIGREE; SYNDROME; TRANSCRIPTION FACTORS;

EID: 42749097003     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.04.001     Document Type: Article

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