ABCMdb

PMID: 21189475

Ciantelli M, Ghirri P, Presi S, Sigali E, Vuerich M, Somaschini M, Ferrari M, Boldrini A, Carrera P
Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.
J Perinatol. 2011 Jan;31(1):70-2., [PubMed]

Sentences

No. Mutations Sentence Comment

28 ABCA3 p.Pro186Thr In ABCA3, a compound heterozygosity for two new variants was found: the c.556C>A transition resulting in the p.Pro186Thr missense substitution in the putative protein and the c.2632delA, which results in a truncated protein (p.Met878Trpfs36X; reference ENST00000301732, numbering starting from ATG). Login to comment 35 ABCA3 p.Pro186Thr For the missense p.Pro186Thr, we observed that the variant was absent in a sample of 134 alleles in the general population drawn from the same area of origin of the patient, thus it would not be a common variant. Login to comment