Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

American Journal of Human Genetics

Volumn 59, Issue 1, 1996, Pages 16-22

  Rubinsztein, David C ^a   Leggo, Jayne ^a   Coles, Rhian ^a,b   Almqvist, Elisabeth ^c,u   Biancalana, Valerie ^d   Cassiman, Jean Jacques ^e   Chotai, Kokila ^f   Connarty, Margaret ^g   Craufurd, David ^h   Curtis, Anne ⁱ   Curtis, Diana ^t   Davidson, Mark J ^s   Differ, Anne Marie ^j   Dode, Catherine ^k   Dodge, Alan ^h   Frontali, Marina ^r   Ranen, Neal G ^o   Stine, O Colin ^o   Sherr, Meeia ^o   Abbott, Margaret H ^o   Franz, Mary L ^o   Graham, Colin A ^m   Harper, Peter S ⁿ   Hedreen, John C ^l,o   Jackson, Anthony ⁱ   Kaplan, Jean Claude ^k   Losekoot, Monique ^p   MacMillan, John C ⁿ   Morrison, Patrick ^m   Trottier, Yvon ^d   Novelletto, Andrea ^q   Simpson, Sheila A ^s   Theilmann, Jane ^c   Whittaker, Joanne L ^a   Folstein, Susan E ^l,o   Ross, Christopher A ^o,p   Hayden, Michael R ^c   more..

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

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^e UNIVERSITY OF LEUVEN   (Belgium)

^f NORTHWICK PARK HOSPITAL   (United Kingdom)

^g SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^h St Mary's Hospital   (United Kingdom)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

^j GUY S HOSPITAL   (United Kingdom)

^k Hopital Cochin ^*  (France)

^l TUFTS MEDICAL CENTER   (United States)

^m BELFAST CITY HOSPITAL   (United Kingdom)

ⁿ CARDIFF UNIVERSITY   (United Kingdom)

^o JOHNS HOPKINS UNIVERSITY   (United States)

^p LEIDEN UNIVERSITY   (Netherlands)

^q UNIVERSITY OF ROME TOR VERGATA   (Italy)

^r Institute of Experimental Medicine CNR   (Italy)

^s UNIVERSITY OF ABERDEEN   (United Kingdom)

^t Centre for Human Genetics   (United Kingdom)

^u KAROLINSKA INSTITUTE   (Sweden)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRINUCLEOTIDE;

AGED; ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; NUCLEOTIDE REPEAT; ONSET AGE; PENETRANCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0029997090     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)