A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.

Rajpar, S F; Cullup, T; Kelsell, D P; Moss, C

Rajpar, S F; Cullup, T; Kelsell, D P; Moss, C.

Affiliation

Rajpar SF; Birmingham Children's Hospital, Department of Dermatology, Birmingham, West Midlands, and University of London, UK. sfr@blueyonder.co.uk

Br J Dermatol ; 155(1): 204-6, 2006 Jul.

Article in En | MEDLINE | ID: mdl-16792777

Subject(s)

ATP-Binding Cassette Transporters/genetics; Codon, Nonsense; Ichthyosis, Lamellar/genetics; Codon, Terminator; Genotype; Homozygote; Humans; Infant, Newborn; Male; Phenotype; Sequence Analysis, DNA

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Collection: 01-internacional Database: MEDLINE Main subject: Ichthyosis, Lamellar / Codon, Nonsense / ATP-Binding Cassette Transporters Limits: Humans / Male / Newborn Language: En Journal: Br J Dermatol Year: 2006 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom

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