A putative new locus for an autosomal recessive cerebellar ataxia syndrome on chromosome 22q11 [3]

Clinical Genetics

Volumn 68, Issue 2, 2005, Pages 185-187

  Baris, Hagit ^a   Legum, C ^b   Levin, L ^b   Magal, N ^b   Drasinover, V ^b   Tan, W H ^b   Halpern, G J ^b   Shohat, T ^b   Shohat, M ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CASE REPORT; CEREBELLAR ATAXIA; CHILD; CHROMOSOME 22Q; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA ISOLATION; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENETIC LINKAGE; HAPLOTYPE; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; INFANT; LETTER; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ARABS; CEREBELLAR ATAXIA; CHROMOSOMES, HUMAN, PAIR 22; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; FAILURE TO THRIVE; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; LINKAGE (GENETICS);

ATAXIA;

EID: 22244438551     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00462.x     Document Type: Letter

References (5)

1. Koenig M. Rare forms of autosomal recessive neurodegenerative ataxia. Semin Pediatr Neurol 2003: 10: 183-192.
2. Sambrook J, Russell DW. Rapid isolation of mammalian DNA. In: Molecular cloning: a laboratory manual, 3rd edn (Sambrook J, Russell DW, eds). Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 2001: 6.28-6.30.
3. Kasprzyk A, Keefe D, Smedley D et al. EnsMart: a generic system for fast and flexible access to biological data. Genome Res 2004: 14: 160-169.
4. Birney E, Andrews D, Bevan P et al. Ensembl 2004. Nucleic Acids Res 2004: 32(Database issue): D468-D470.
5. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.