Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: Implications for mapping and cloning a Duane gene

European Journal of Human Genetics

Volumn 6, Issue 3, 1998, Pages 187-193

  Calabrese, G ^a   Stuppia, L ^a   Morizio, E ^a   Guanciali Franchi, P ^a   Pompetti, F ^a   Mingarelli, R ^b,c   Marsilio, T ^a   Rocchi, M ^d   Gallenga, P E ^a   Palka, G ^a,e   Dallapiccola, B ^b,c  

^a UNIVERSITY OF CHIETI   (Italy)

^b Mendel CSS IRCSS   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d UNIVERSITY OF BARI   (Italy)

^e NONE   (Italy)

Author keywords

Chromosome 8; Complex rearrangement; Deletion; Duane syndrome; Mapping

Indexed keywords

CONTIG;

ARTICLE; CASE REPORT; CHROMOSOME 8; CHROMOSOME 8Q; DUANE RETRACTION SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE INSERTION SEQUENCE; GENE MAPPING; GENE REARRANGEMENT; HUMAN; MENTAL DEFICIENCY; PRIORITY JOURNAL; SCHOOL CHILD; YEAST ARTIFICIAL CHROMOSOME;

EID: 13144306056     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200173     Document Type: Article

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