ABCA3 p.Gly378Arg
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PMID: 19252731
[PubMed]
Anandarajan M et al: "ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn."
No.
Sentence
Comment
27
DNA sequencing demonstrated a mutation in coding exon 8 on one allele of the baby`s ABCA3 gene resulting in substitution of arginine for glycine (G378R, where G refers to Glycine and R refers to Arginine).
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ABCA3 p.Gly378Arg 19252731:27:146
status: NEW28 There was a second mutation in the last base coding exon 18 that led to substitution of arginine for glycine in codon 1002 (G1002R).
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ABCA3 p.Gly378Arg 19252731:28:146
status: NEW