Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13

Human Genetics

Volumn 113, Issue 3, 2003, Pages 293-295

  Tranebjaerg, Lisbeth ^a,b,c   Teslovich, Tanya M ^d,e   Jones, Mary Pat ^d   Barmada, M Michael ^f   Fagerheim, Toril ^c   Dahl, Arve ^g   Escolar, Diana M ^e   Trent, Jeffrey M ^d   Gillanders, Elizabeth M ^d   Stephan, Dietrich A ^d,e,h  

^a BISPEBJERG HOSPITAL   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^e CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^f UNIVERSITY OF PITTSBURGH   (United States)

^g OSLO UNIVERSITY HOSPITAL   (Norway)

^h TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 20Q; CHROMOSOME 20Q11-Q13; CLINICAL ARTICLE; CONTROLLED STUDY; EYE MOVEMENT; FAMILY; GAIT DISORDER; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC HETEROGENEITY; GENOME SIZE; GENOTYPE; HOMOZYGOSITY; HUMAN; INFANT DISEASE; LIMB MOVEMENT; MARKER GENE; MOTOR COORDINATION; NORWAY; PRIORITY JOURNAL; SPEECH DISORDER;

ADOLESCENT; ADULT; AGED; ATAXIA; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; CONSANGUINITY; FEMALE; FLUORESCENT DYES; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; LOD SCORE; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; NORWAY; PEDIGREE;

ATAXIA;

EID: 0042566063     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0967-8     Document Type: Article

References (3)

1. Kong A, Cox NJ (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61:1179-1188
2. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58:1347-1363
3. Kvistad PH, Dahl A, Skre H (1985) Autosomal recessive non-progressive ataxia with an early childhood debut. Acta Neurol Scand 71:295-302