Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma

Human Molecular Genetics

Volumn 18, Issue 20, 2009, Pages 3969-3977

  Narooie Nejad, Mehrnaz ^a   Paylakhi, Seyed Hassan ^b   Shojaee, Seyedmehdi ^c,h   Fazlali, Zeinab ^c   Rezaei Kanavi, Mozhgan ^d   Nilforushan, Naveed ^c,e   Yazdani, Shahin ^d   Babrzadeh, Farbod ^a   Suri, Fatemeh ^c   Ronaghi, Mostafa ^f   Elahi, Elahe ^c   Paisán Ruiz, Coro ^g  

^a NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^b TARBIAT MODARES UNIVERSITY   (Iran)

^c UNIVERSITY OF TEHRAN   (Iran)

^d SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f ILLUMINA INC   (United States)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 2; SERINE; TYROSINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CHROMOSOME 14; CLINICAL ARTICLE; CONGENITAL GLAUCOMA; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MALE; MONOZYGOTIC TWINS; NUCLEOTIDE SEQUENCE; ONSET AGE; PRESCHOOL CHILD; PRIMARY GLAUCOMA; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TRABECULAR MESHWORK; WILD TYPE;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 14; EYE; FEMALE; GLAUCOMA; HUMANS; IRAN; LATENT TGF-BETA BINDING PROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 70349578331     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp338     Document Type: Article

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