Shadow autozygosity mapping by linkage exclusion (SAMPLE): A simple strategy to identify the genetic basis of lethal autosomal recessive disorders

Human Mutation

Volumn 30, Issue 12, 2009, Pages 1642-1649

  Carr, Ian M ^a   Szymanska, Katarzyna ^a   Sheridan, Eamonn ^a   Markham, Alexander F ^a   Bonthron, David T ^a   Johnson, Colin A ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

Autozygosity mapping; Bioinformatics; Consanguineous pedigrees; High density microarray genotyping; MKS3 TMEM67; Single nucleotide polymorphisms; SNP; Software

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 8Q; COMPUTER PROGRAM; CONSANGUINITY; GENE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; GENOME; GENOTYPE; HAPLOTYPE; HUMAN; LETHALITY; MECKEL SYNDROME; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MKS3 GENE; PARENT; PEDIGREE; PRIORITY JOURNAL; SHADOW AUTOZYGOSITY MAPPING BY LINKAGE EXCLUSION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; CHROMOSOME MAPPING; CONSANGUINITY; FEMALE; GENES, LETHAL; GENES, RECESSIVE; GENETIC LOCI; GENOME, HUMAN; HAPLOTYPES; HUMANS; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME;

EID: 71749104302     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21105     Document Type: Article

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