A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a Duane syndrome patient

Investigative Ophthalmology and Visual Science

Volumn 43, Issue 12, 2002, Pages 3609-3612

  Pizzuti, Antonio ^a,b,c   Calabrese, Giuseppe ^c,d   Bozzali, Maura ^a,b,c,e   Telvi, Louise ^c,f   Morizio, Elisena ^c,d   Guida, Valentina ^a,b,c   Gatta, Valentina ^c,d   Stuppia, Liborio ^c,d,g   Ion, Alexandra ^c,f   Palka, Giandomenico ^c,d   Dallapiccola, Bruno ^a,b,c  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c IRCCS San Giovanni Rotondo   (Italy)

^d UNIVERSITY OF CHIETI   (Italy)

^e FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^f HÔPITAL SAINT VINCENT DE PAUL   (France)

^g CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYPEPTIDASE; COMPLEMENTARY DNA; CONTIG; FUNGAL DNA; PEPTIDASE;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 8Q; CHROMOSOME TRANSLOCATION; CLONE; DNA SEQUENCE; DUANE RETRACTION SYNDROME; ENZYME ACTIVITY; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENOME; HUMAN; MALE; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; OPHTHALMOPLEGIA; PRIORITY JOURNAL; RETINA;

ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BLOTTING, NORTHERN; CARBOXYPEPTIDASES; CARBOXYPEPTIDASES A; CHROMOSOME BREAKAGE; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 8; DUANE RETRACTION SYNDROME; EXPRESSED SEQUENCE TAGS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; TRANSLOCATION, GENETIC;

EID: 0036902560     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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