Fine structure mapping of CIAS1: Identification of an ancestral haplotype and a common FCAS mutation, L353P

Human Genetics

Volumn 112, Issue 2, 2003, Pages 209-216

  Hoffman, Hal M ^a   Gregory, Simon G ^b   Mueller, James L ^a   Tresierras, Mark ^a   Broide, David H ^a   Wanderer, Alan A ^c   Kolodner, Richard D ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CONTIG MAPPING; CONTROLLED STUDY; CROSSING OVER; DIAGNOSTIC VALUE; EXON; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILY; GENE; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; INFLAMMATORY DISEASE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NORTH AMERICA; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PLESIOMORPHY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; AUTOIMMUNE DISEASE; CHEMISTRY; CHROMOSOME MAP; COLD; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENETIC LINKAGE; GENETICS; MALE; METABOLISM; PEDIGREE; POLYMERASE CHAIN REACTION;

CARRIER PROTEIN; CIAS1 PROTEIN, HUMAN; MICROSATELLITE DNA; PLASMA PROTEIN; PRIMER DNA;

AUTOIMMUNE DISEASES; BLOOD PROTEINS; CARRIER PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, BACTERIAL; COLD; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; MUTATION, MISSENSE; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 0037317936     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0860-x     Document Type: Article

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