Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

Journal of Medical Genetics

Volumn 42, Issue 3, 2005, Pages 253-259

  Aubourg, P ^a   Krahn, M ^a,b   Bernard, R ^a,b   Nguyen, K ^b   Forzano, O ^b   Boccaccio, I ^a   Delague, V ^a   DeSandre Giovannoli, A ^a   Pouget, J ^b   Depetris D ^a   Mattei, M G ^a   Philip, N ^a,b   Levy N ^a,b  

^a INSERM   (France)

^b TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 13; CHROMOSOME 2; CHROMOSOME TRANSLOCATION; CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLE TYPE 3; CYTOGENETICS; FAMILY STUDY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC TRANSCRIPTION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MOLECULAR GENETICS; NEUROMUSCULAR DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

BLEPHAROPTOSIS; CHILD; CHROMOSOME MAPPING; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; FIBROSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MIDDLE AGED; OCULOMOTOR MUSCLES; OPHTHALMOPLEGIA; PEDIGREE; TRANSLOCATION, GENETIC;

EID: 20144373227     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.021899     Document Type: Article

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