Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1993-2-19
pubmed:abstractText
Familial dysautonomia (FD) is a recessive neurological disorder that affects the development of the sensory and autonomic nervous system. The gene defect appears to be limited to the Ashkenazi Jewish population, where the carrier frequency is 1 in 30. One hundred and ninety-one marker loci representing all autosomes were tested for linkage with the FD genetic defect in 23 families. A combination of pairwise and multipoint analyses excluded the FD gene from at least 60% of the autosomal genome. The program EXCLUDE predicted regions of chromosomes 2, 4, 5q, 9, or 10 as the most promising locations for future analyses.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-1645874, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-1677316, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-1774070, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-1850821, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-1870994, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-2011541, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-2037294, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-2081586, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-2563348, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-2576373, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-2591961, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-2791656, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-2886891, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-2906323, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-2916582, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-3652488, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-3669048, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-3755866, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-4322121, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-6206717, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-6330750, http://linkedlifedata.com/resource/pubmed/commentcorrection/8093738-6587361
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
47-52
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:8093738-Chromosome Mapping, pubmed-meshheading:8093738-Chromosomes, Human, 4-5, pubmed-meshheading:8093738-Chromosomes, Human, Pair 10, pubmed-meshheading:8093738-Chromosomes, Human, Pair 9, pubmed-meshheading:8093738-Dysautonomia, Familial, pubmed-meshheading:8093738-Europe, Eastern, pubmed-meshheading:8093738-Female, pubmed-meshheading:8093738-Genetic Linkage, pubmed-meshheading:8093738-Genetic Markers, pubmed-meshheading:8093738-Genome, Human, pubmed-meshheading:8093738-Humans, pubmed-meshheading:8093738-Jews, pubmed-meshheading:8093738-Likelihood Functions, pubmed-meshheading:8093738-Lod Score, pubmed-meshheading:8093738-Male, pubmed-meshheading:8093738-New York, pubmed-meshheading:8093738-Pedigree, pubmed-meshheading:8093738-Polymorphism, Restriction Fragment Length, pubmed-meshheading:8093738-Software
pubmed:year
1993
pubmed:articleTitle
Exclusion of familial dysautonomia from more than 60% of the genome.
pubmed:affiliation
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Boston 02129.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't