A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation

Human Genetics

Volumn 110, Issue 3, 2002, Pages 244-250

  McMullan, Tristan F W ^a,b   Crolla, John A ^a,b   Gregory, Simon G ^c   Carter, Nigel P ^c   Cooper, Rachel A ^c   Howell, Gareth R ^c   Robinson, David O ^a,b  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; OLIGONUCLEOTIDE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; ZINC FINGER HOMEODOMAIN PROTEIN 4; ZINC FINGER PROTEIN;

ADULT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BACTERIOPHAGE P1 ARTIFICIAL CHROMOSOME; CHROMOSOMAL LOCALIZATION; CHROMOSOME 8; CHROMOSOME ANALYSIS; CHROMOSOME ISOLATION; CHROMOSOME TRANSLOCATION; DNA SEQUENCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE AMPLIFICATION; GENE LOCUS; GENE MAPPING; GENETIC CODE; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HUMAN; MOLECULAR GENETICS; MOUSE; MUSCLE; NERVOUS TISSUE; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PTOSIS; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SEQUENCE TAGGED SITE; UPPER EYELID; YEAST ARTIFICIAL CHROMOSOME;

ADULT; ANIMALS; BASE SEQUENCE; BLEPHAROPTOSIS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 8; DNA; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; SPECIES SPECIFICITY; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC; ZINC FINGERS;

BACTERIA (MICROORGANISMS); MURINAE;

EID: 0036523934     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0679-5     Document Type: Article

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