Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma

Journal of Medical Genetics

Volumn 36, Issue 4, 1999, Pages 290-294

  Plášilová, Martina ^a   Stoilov, Ivaylo ^b   Sarfarazi, Mansoor ^b   Kádasi, Ludovít ^c   Feráková, Eva ^a   Ferák, Vladimír ^a  

^a Physics and Informatics   (Slovakia)

^b UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^c INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

Author keywords

Cytochrome P4501B1; Founder effect; Primary congenital glaucoma (PCG); Roms (Gypsies)

Indexed keywords

CYTOCHROME P450 ISOENZYME;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL GLAUCOMA; CONTROLLED STUDY; EXON; EYE DISEASE; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SLOVAKIA;

ARYL HYDROCARBON HYDROXYLASES; CHROMOSOME MAPPING; CYTOCHROME P-450 ENZYME SYSTEM; GLAUCOMA; HUMANS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; ROMANIA;

EID: 2442723700     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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