LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

European Journal of Human Genetics

Volumn 19, Issue 3, 2011, Pages 326-333

  Azmanov, Dimitar N ^a   Dimitrova, Stanislava ^b   Florez, Laura ^a   Cherninkova, Sylvia ^b   Draganov, Dragomir ^c   Morar, Bharti ^a   Saat, Rosmawati ^a   Juan, Manel ^d   Arostegui, Juan I ^d   Ganguly, Sriparna ^e   Soodyall, Himla ^f   Chakrabarti, Subhabrata ^g   Padh, Harish ^h   López Nevot, Miguel A ⁱ   Chernodrinska, Violeta ^b   Anguelov, Botio ^b   Majumder, Partha ^e,j   Angelova, Lyudmila ^c   Kaneva, Radka ^b   MacKey, David A ^a   Tournev, Ivailo ^b,k   Kalaydjieva, Luba ^a   more..

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c MEDICAL UNIVERSITY OF VARNA   (Bulgaria)

^d HOSPITAL CLÍNIC   (Spain)

^e INDIAN STATISTICAL INSTITUTE   (India)

^f UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^g L V PRASAD EYE INSTITUTE   (India)

^h Research Development Centre Thaltej   (India)

ⁱ HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

^j NATIONAL INSTITUTE OF BIOMEDICAL GENOMICS   (India)

^k NEW BULGARIAN UNIVERSITY   (Bulgaria)

more..

Author keywords

CYP1B1; founder population; Gypsies; LTBP2; PCG

Indexed keywords

CYTOCHROME P450 1B1; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CONGENITAL GLAUCOMA; CONTROLLED STUDY; ECTOPIA LENTIS; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; GIPSY; HAPLOTYPE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; INFANT; INHERITANCE; LENS LUXATION; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; POPULATION GENETICS; PRESCHOOL CHILD; PRIMARY CONGENITAL GLAUCOMA; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TRABECULAR MESHWORK; TRABECULOTOMY;

ADOLESCENT; ADULT; ARYL HYDROCARBON HYDROXYLASES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; FOUNDER EFFECT; GENETICS, POPULATION; GLAUCOMA; GYPSIES; HOMOZYGOTE; HUMANS; INFANT; LATENT TGF-BETA BINDING PROTEINS; MALE; MUTATION; PEDIGREE; PHENOTYPE; TRABECULAR MESHWORK; VISION, OCULAR; YOUNG ADULT;

EID: 79951809419     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.181     Document Type: Article

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