Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus

American Journal of Human Genetics

Volumn 90, Issue 1, 2012, Pages 69-75

  Mitchell, Karen ^a,b   O'Sullivan, James ^a,c   Missero, Caterina ^d   Blair, Ed ^e   Richardson, Rose ^a,b   Anderson, Beverley ^c   Antonini, Dario ^d   Murray, Jeffrey C ^f   Shanske, Alan L ^g   Schutte, Brian C ^h   Romano, Rose Anne ⁱ   Sinha, Satrajit ⁱ   Bhaskar, Sanjeev S ^c   Black, Graeme C M ^a,c   Dixon, Jill ^b   Dixon, Michael J ^a,b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

^d CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^e CHURCHILL HOSPITAL   (United Kingdom)

^f UNIVERSITY OF IOWA   (United States)

^g ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^h State University of New York at Buffalo ^*  (United States)

ⁱ UNIVERSITY AT BUFFALO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; PROTEIN P63; SERINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARTSOCAS PAPAS SYNDROME; CELL DIFFERENTIATION; CELL PROLIFERATION; DNA METHYLATION; EPITHELIUM; EXOME; EXON; GENE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GENETIC TRANSCRIPTION; HUMAN; KERATINOCYTE; LETHALITY; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RIPK4 GENE; SIGNAL TRANSDUCTION; WEBBED NECK; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; CLEFT LIP; CLEFT PALATE; CONSANGUINITY; CRANIOFACIAL ABNORMALITIES; EXOME; EXONS; GENES, RECESSIVE; GENETIC LOCI; HUMANS; KERATINOCYTES; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHOPROTEINS; PROTEIN-SERINE-THREONINE KINASES; PTERYGIUM; SEVERITY OF ILLNESS INDEX; SKIN ABNORMALITIES; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS;

EID: 84855839197     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.11.013     Document Type: Article

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