Mutation of a gene encoding a putative chaperonin causes McKusick- Kaufman syndrome

Nature Genetics

Volumn 25, Issue 1, 2000, Pages 79-82

  Stone, Deborah L ^a   Slavotinek, Anne ^a   Bouffard, Gerard G ^b   Banerjee Basu, Sharmila ^b   Baxevanis, Andreas D ^b   Barr, Mason ^c   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONIN;

ARTICLE; CASE REPORT; GENE CLUSTER; GENE MAPPING; HOMOZYGOSITY; HUMAN; MCKUSICK KAUFMAN SYNDROME; MISSENSE MUTATION; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; CHAPERONINS; CHILD; CLONING, MOLECULAR; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYDACTYLY; SYNDROME; UROGENITAL ABNORMALITIES;

EID: 0034019637     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/75637     Document Type: Article

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