PMID: 17719949

Kunig AM, Parker TA, Nogee LM, Abman SH, Kinsella JP
ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.
J Pediatr. 2007 Sep;151(3):322-4., [PubMed]
Sentences
No. Mutations Sentence Comment
37 ABCA3 p.Leu326Arg
X
ABCA3 p.Leu326Arg 17719949:37:155
status: NEW
view ABCA3 p.Leu326Arg details
 DNA was prepared from peripheral blood leukocytes as described previously,4 and the child was subsequently found to be homozygous for a missense mutation (L326R) in the gene encoding ABCA3. Login to comment