ABCA3 p.Leu326Arg
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PMID: 17719949
[PubMed]
Kunig AM et al: "ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn."
No.
Sentence
Comment
37
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.
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ABCA3 p.Leu326Arg 17719949:37:155
status: NEW