A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin

Molecular Vision

Volumn 13, Issue , 2007, Pages 2035-2040

  Vanita, Vanita ^a   Singh, Jai Rup ^a   Singh, Daljit ^b   Veron, Raymonda ^c   Robinson, Peter N ^c   Sperling, Karl ^c  

^a GURU NANAK DEV UNIVERSITY   (India)

^b Dr Daljit Singh Eye Hospital   (India)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; CYTOSINE; FIBRILLIN 1; FLUORESCENT DYE; TYROSINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 15Q; CHROMOSOME 5Q; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; CORRELATION ANALYSIS; ECTOPIA LENTIS; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; HUMAN CELL; INDIA; MALE; MEDICAL RECORD; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; AMINO ACID SUBSTITUTION; ARGININE; CHILD; CODON; CYSTEINE; CYTOSINE; ECTOPIA LENTIS; FEMALE; GENES, DOMINANT; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; INDIA; LINKAGE (GENETICS); LOD SCORE; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; THYMINE;

EID: 35648947881     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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