PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Nature Genetics

Volumn 44, Issue 2, 2012, Pages 140-147

  Grall, Anaïs ^a,b   Guaguère, Eric ^c   Planchais, Sandrine ^a,b   Grond, Susanne ^d   Bourrat, Emmanuelle ^e   Hausser, Ingrid ^f,g   Hitte, Christophe ^a,b   Le Gallo, Matthieu ^a,b   Derbois, Céline ^h   Kim, Gwang Jin ^i,j   Lagoutte, Laëtitia ^a,b   Degorce Rubiales, Frédérique ^k   Radner, Franz P W ^d   Thomas, Anne ^l   Küry, Sébastien ^a,b,m   Bensignor, Emmanuel ^c   Fontaine, Jacques ⁿ   Pin, Didier ^o   Zimmermann, Robert ^d   Zechner, Rudolf ^d   Lathrop, Mark ^h,p   Galibert, Francis ^a,b   André, Catherine ^a,b   Fischer, Judith ^h,i,j   more..

^a CNRS   (France)

^b UNIVERSITÉ DE RENNES 1   (France)

^c CLINIQUE VÉTÉRINAIRE   (France)

^d UNIVERSITY OF GRAZ   (Austria)

^e SAINT LOUIS HOSPITAL   (France)

^f UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^g UNIVERSITY OF HEIDELBERG   (Germany)

^h DIF   (France)

ⁱ UNIVERSITY OF FREIBURG   (Germany)

^j UNIVERSITY OF FREIBURG   (Germany)

^k Laboratoire d'Anatomie Pathologique Veterinaire du Sud Ouest   (France)

^l Antagene Animal Genetics Laboratory   (France)

^m NANTES UNIVERSITY HOSPITAL   (France)

ⁿ Clinique Veterinaire   (Belgium)

^o VETAGRO SUP   (France)

^p FONDATION JEAN DAUSSET CEPH   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; EXPERIMENTAL DOG; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; ICHTHYOSIS; INDEL MUTATION; LAMELLAR ICHTHYOSIS; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PNPLA1 GENE; PRIORITY JOURNAL; STOP CODON;

ADULT; ANIMALS; BASE SEQUENCE; CELLS, CULTURED; CODON, NONSENSE; DERMATOLOGIC AGENTS; DOGS; FEMALE; GENES, RECESSIVE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; ICHTHYOSIS, LAMELLAR; INDEL MUTATION; LIPASE; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NITRENDIPINE; SKIN;

CANIS FAMILIARIS;

EID: 84856241736     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.1056     Document Type: Article

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