Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

Nature Genetics

Volumn 22, Issue 1, 1999, Pages 82-84

  Kitao, Saori ^a   Shimamoto, Akira ^a   Goto, Makoto ^b   Miller, Robert W ^c   Smithson, William A ^d   Lindor, Noralane M ^d   Furuichi, Yasuhiro ^a  

^a AGENE Research Institute   (Japan)

^b Tokyo Metropolitan Ohtsuka Hospital   (Japan)

^c NATIONAL CANCER INSTITUTE   (United States)

^d MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANCER SUSCEPTIBILITY; CATARACT; CHROMOSOME 17Q; CHROMOSOME 8Q; CHROMOSOME REARRANGEMENT; CYTOGENETICS; ESCHERICHIA COLI; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MOLECULAR CLONING; MOSAICISM; NUCLEOTIDE SEQUENCE; PREMATURE AGING; PRIORITY JOURNAL; ROTHMUND THOMSON SYNDROME; SACCHAROMYCES CEREVISIAE; SCHIZOSACCHAROMYCES POMBE; SKELETON MALFORMATION; SKIN DEFECT;

ADENOSINE TRIPHOSPHATASES; BASE SEQUENCE; CELLS, CULTURED; DNA HELICASES; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; ISOENZYMES; MALE; MUTATION; PEDIGREE; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME;

EID: 0032939991     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/8788     Document Type: Article

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