Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

Human Molecular Genetics

Volumn 7, Issue 7, 1998, Pages 1185-1192

  Den Dunnen, Johan T ^a   Kraayenbrink, Thirsa ^a,b   Van Schooneveld, Mary ^b,c   Van Vosse, Esther De ^a   De Jong, Paulus T V M ^b,d,e   Ten Brink, Jacoline B ^b   Schuurman, Ellen ^b   Tijmes, Nel ^b   Van Ommen, Gen Jan B ^a   Bergen, Arthur A B ^b   Andolfi, Grazia ^f   Montini, Eugenio ^f   Li, Yün ^g   Oudet, Claudine ^h   Bolz, Hanno ^g   Kaplan, Josselyne ⁱ   Orth, Ulrike ^g   Gal, Andreas ^g   Hanauer, Andre ^h   Bardelli, Anna Maria ^j   Ayuso, Carmen ^k   Bitoun, Pierre ^l   Ventruto, Valerio ^m   Dallapiccola, Bruno ⁿ   Ballabio, Andrea ^f   Franco, Brunella ^f   Hiriyanna, K T ^o   Bingham, Eve L ^o   McHenry, Christina ^o   Pawar, Hemant ^o   Coats, Caraline ^o   Darga, Thomas ^o   Richards, Julia E ^o   Sieving, Paul A ^o   Huopaniemi, Laura ^ae   Rantala, Anne ^ae   Rosenberg, Thomas ^p   Dahl, Niklas ^q   Wright, Alan ^r   De La Chapelle, Albert ^s,t   Alitalo, Tiina ^s,u,v   Lenzner, Steffen ^w   Brunner, Bodo ^w   Feil, Silke ^w   Niesler, Beate ^x   Schulz, Ute ^w   Pinckers, Alfred ^y   Blankennagel, Anita ^z   Ruether, Klaus ^aa   Kellner, Ulrich ^aa   Rappold, Gudrun ^x   Ropers, H Hilger ^w   Kalscheuer, Vera ^w   Berger, Wolfgang ^w   Trump, Dorothy ^ab   Walpole, Susannah M ^ab   Nicolaou, Alexia ^ab   Gaythor, Simon A ^ab   Pimenides, Dimitris ^ab   George, Nick D L ^ac   Moore, Anthony T ^ac,ad   Yates, John R W ^ab   more..

^a LEIDEN UNIVERSITY   (Netherlands)

^b NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^c UTRECHT UNIVERSITY   (Netherlands)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^g UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^h UNIVERSITÉ DE STRASBOURG   (France)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j UNIVERSITY OF SIENA   (Italy)

^k Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^l HÔPITAL JEAN VERDIER   (France)

^m INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

ⁿ UNIVERSITY OF ROME TOR VERGATA   (Italy)

^o UNIVERSITY OF MICHIGAN   (United States)

^p National Eye Clinic for the Visually Impaired Denmark   (Denmark)

^q UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^r WESTERN GENERAL HOSPITAL   (United Kingdom)

^s FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^t OHIO STATE UNIVERSITY   (United States)

^u UNIVERSITY OF HELSINKI   (Finland)

^v HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^w MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^x UNIVERSITY OF HEIDELBERG   (Germany)

^y RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^z UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^aa CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^ab UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^ac CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^ad MOORFIELDS EYE HOSPITAL   (United Kingdom)

^ae NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; DISCOIDIN;

ADULT; ARTICLE; CELL INTERACTION; CLINICAL FEATURE; CONSENSUS SEQUENCE; DISEASE COURSE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN PROTEIN INTERACTION; RETINA MACULA DEGENERATION; RETINOSCHISIS; X CHROMOSOME LINKAGE;

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LINKAGE (GENETICS); MACULAR DEGENERATION; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; X CHROMOSOME;

EID: 7144253129     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.7.1185     Document Type: Article

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