Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

American Journal of Human Genetics

Volumn 69, Issue 5, 2001, Pages 1002-1012

  Lefèvre, Caroline ^a   Jobard, Florence ^a   Caux, Frédéric ^d   Bouadjar, Bakar ^e   Karaduman, Aysen ^f   Heilig, Roland ^b   Lakhdar, Hakima ^g   Wollenberg, Andreas ^h   Verret, Jean Luc ⁱ   Weissenbach, Jean ^b   Özgüc, Meral ^f   Lathrop, Mark ^a   Prud’lhomme, Jean François ^c   Fischer, Judith ^a  

^a CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^b Genoscope   (France)

^c GÉNÉTHON   (France)

^d UNIVERSITÉ PARIS 13   (France)

^e Bab El Oued Hospital   (Algeria)

^f HACETTEPE UNIVERSITY   (Turkey)

^g Department of Dermatology ^*  (United States)

^h LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

ⁱ ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ESTERASE; MESSENGER RNA; THIOL ESTER HYDROLASE; TRIACYLGLYCEROL LIPASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHANARIN DORFMAN SYNDROME; CLINICAL ARTICLE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; FAMILY STUDY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HAPLOTYPE; HUMAN; ICHTHYOSIS; LIPIDOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0034764272     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/324121     Document Type: Article

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