Molecular genetic analysis in the BIGH3 gene in Lattice and granular corneal dystrophy: Is indirect mutation analysis recommended?;Molekulargenetische analyse des BIGH3-gens bei gittriger hornhautdystrophie typ I (Biber-Haab-Dimmer) und bei bröckliger hornhautdystrophie typ II (Avellino): Erlauben hot spots einen indirekten mutationsnachweis?

Klinische Monatsblatter fur Augenheilkunde

Volumn 222, Issue 12, 2005, Pages 1017-1023

  Grünauer Kloevekorn, Claudia ^a   Brautigam S ^b   Wolter Roessler, M ^c   Tost, F ^d   Weidle, E ^e   Froster, U ^b   Duncker, G I W ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c Augenärztliche Gemeinschaftspraxis   (Germany)

^d UNIVERSITY OF GREIFSWALD   (Germany)

^e Augenklinik des Katharinenhospitals   (Germany)

Author keywords

BIGH3 gene; Corneal dystrophy Avellino type; Corneal dystrophy lattice type I; Hot spot mutation; Indirect mutation confirmation

Indexed keywords

ADENINE; ARGININE; CYSTEINE; CYTOSINE; GENOMIC DNA; GUANINE; HISTIDINE; RESTRICTION ENDONUCLEASE; THYMINE;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; BIGH3 GENE; BLOOD; CASE REPORT; CODON; CORNEA DYSTROPHY; DISEASE CLASSIFICATION; DNA SEQUENCE; EXON; FAMILY; FEMALE; GENE; GENE MUTATION; GERMANY; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PENETRATING KERATOPLASTY; RESTRICTION MAPPING;

ADULT; CORNEAL DYSTROPHIES, HEREDITARY; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; RISK ASSESSMENT; RISK FACTORS; TRANSFORMING GROWTH FACTOR BETA;

EID: 30344443948     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-858589     Document Type: Article

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