Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

Human Molecular Genetics

Volumn 6, Issue 4, 1997, Pages 641-647

  Stoilov, Ivaylo ^a   Akarsu, A Nurten ^a   Sarfarazi, Mansoor ^a  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 ISOENZYME;

ARTICLE; CHROMOSOME 2P; CONGENITAL GLAUCOMA; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENETIC LINKAGE; HUMAN; HUMAN CELL; INTRON; PRIORITY JOURNAL; TRABECULAR MESHWORK;

AMINO ACID SEQUENCE; ARYL HYDROCARBON HYDROXYLASES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CYTOCHROME P-450 ENZYME SYSTEM; FEMALE; GENE EXPRESSION; GENES, RECESSIVE; GENETIC MARKERS; HOMOZYGOTE; HUMANS; HYDROPHTHALMOS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; TRABECULAR MESHWORK;

EID: 0030942553     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.4.641     Document Type: Article

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