ABCMdb

PMID: 21339420

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Ganemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Arch Dermatol. 2011 Jun;147(6):681-6. Epub 2011 Feb 21., [PubMed]

Sentences

No. Mutations Sentence Comment

177 ABCA12 p.Val1089Phe ABCA12 p.Gly1179Arg In our series, 2 missense mutations were identified, namely V1089F in exon 23 combined with a splice site mutation in exon 33 in one patient, and G1179R (homozygous) in exon 24 of another patient. Login to comment 179 ABCA12 p.Val1089Phe ABCA12 p.Gly1179Arg In our series, 2 missense mutations were identified, namely V1089F in exon 23 combined with a splice site mutation in exon 33 in one patient, and G1179R (homozygous) in exon 24 of another patient. Login to comment