Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children

Journal of Investigative Dermatology

Volumn 130, Issue 6, 2010, Pages 1543-1550

  Cabral, Rita M ^a   Liu, Lu ^b   Hogan, Carol ^c   Dopping Hepenstal, Patricia J C ^b   Winik, Beatriz C ^d   Asial, Ral A ^e   Dobson, Richard ^a   Mein, Charles A ^a   Baselaga, Patricia A ^f   Mellerio, Jemima E ^g   Nanda, Arti ^h   Boente, Maria Del Carmen ^f   Kelsell, David P ^a   McGrath, John A ^g   South, Andrew P ^a,c  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d UNIVERSIDAD NACIONAL DE TUCUMÁN   (Argentina)

^e Universidad Nacional de Tucuman UNT Facultad de Medicina   (Argentina)

^f Hospital del Nino Jesus Argentina   (Argentina)

^g ST THOMAS HOSPITAL   (United Kingdom)

^h As'ad Al Hamad Dermatology Center   (Kuwait)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; AMINO ACID; COMPLEMENTARY DNA; GUANINE; MESSENGER RNA; RECOMBINANT PROTEIN;

5' UNTRANSLATED REGION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; DIFFUSE PALMOPLANTAR KERATODERMA; GENE; GENE AMPLIFICATION; GENE MAPPING; GENETIC CODE; HEART DEVELOPMENT; HEART RIGHT VENTRICLE DYSPLASIA; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; JUP GENE; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; RNA TRANSLATION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DISEASE; SKIN FRAGILITY;

EID: 77952420966     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.7     Document Type: Article

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