A homozygous mutation in LTBP2 causes isolated microspherophakia

Human Genetics

Volumn 128, Issue 4, 2010, Pages 365-371

  Kumar, Arun ^a   Duvvari, Maheswara R ^a   Prabhakaran, Venkatesh C ^b   Shetty, Jyoti S ^c   Murthy, Gowri J ^d   Blanton, Susan H ^e  

^a INDIAN INSTITUTE OF SCIENCE   (India)

^b Minto Ophthalmic Hospital   (India)

^c Bangalore West Lions Eye Hospital   (India)

^d Prabha Eye Clinic and Research Centre   (India)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BINDING PROTEIN; DNA; LATENT TRANSFORMING GROWTH FACTOR BETA 1 BINDING PROTEIN 2; UNCLASSIFIED DRUG; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LTBP2 PROTEIN, HUMAN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 14Q; CHROMOSOME MARKER; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DNA SEQUENCE; EXON; FEMALE; GENE; GENE DUPLICATION; GENE IDENTIFICATION; GENE INSERTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOME; HOMOZYGOSITY; HUMAN; INDIAN; LENS DISEASE; LTBP2 GENE; MALE; MICROSPHEROPHAKIA; PEDIGREE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; CHROMOSOME 14; CHROMOSOME MAP; CONSANGUINITY; EYE MALFORMATION; FAMILY HEALTH; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; INDIA; LENS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; EYE ABNORMALITIES; FAMILY HEALTH; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; INDIA; LATENT TGF-BETA BINDING PROTEINS; LENS, CRYSTALLINE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 77957559653     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0858-8     Document Type: Article

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