PMID: 22299640

Peterson H, Lofgren S, Bremmer S, Krol A
Novel ABCA-12 Mutations Leading to Recessive Congenital Ichthyosis.
Pediatr Dermatol. 2012 Feb 3. doi: 10.1111/j.1525-1470.2011.01695.x., [PubMed]
Sentences
No. Mutations Sentence Comment
14 ABCA12 p.Met1100Arg
X
ABCA12 p.Met1100Arg 22299640:14:149
status: NEW
view ABCA12 p.Met1100Arg details
 Gene testing recently revealed her to have compound heterozygous novel adenosine triphosphate-binding cassette A12 (ABCA12) mutations: a c.3299T>G/p.M1100R and a c.7164dupT/p.Met2389 TyrfsX27. Login to comment