Discovery of rare homozygous mutations from studies of consanguineous pedigrees

Current Protocols in Human Genetics

Volumn , Issue SUPPL.75, 2012, Pages

  Alkuraya, Fowzan S ^a,b,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Autozygome; Autozygosity; Exome; Homozygosity; Linkage; Mapping

Indexed keywords

ARTICLE; AUTOZYGOSITY; COMPUTER PROGRAM; CONSANGUINITY; EXOME; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC LINKAGE; GENETIC PROCEDURES; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IDENTICAL BY DESCENT; IDENTICAL BY STATE; PEDIGREE; PRIORITY JOURNAL; RECESSIVE GENE; SINGLE NUCLEOTIDE POLYMORPHISM; ZYGOSITY; CHROMOSOME MAP; DNA MICROARRAY; GENE LINKAGE DISEQUILIBRIUM; GENETICS; HOMOZYGOTE; HUMAN GENOME; MUTATION; REVIEW;

CHROMOSOME MAPPING; CONSANGUINITY; GENES, RECESSIVE; GENOME, HUMAN; HAPLOTYPES; HOMOZYGOTE; HUMANS; LINKAGE DISEQUILIBRIUM; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84874981980     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg0612s75     Document Type: Article

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