ABCA3 p.Gly1002Arg
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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
28
There was a second mutation in the last base coding exon 18 that led to substitution of arginine for glycine in codon 1002 (G1002R).
X
ABCA3 p.Gly1002Arg 19252731:28:88
status: NEWX
ABCA3 p.Gly1002Arg 19252731:28:124
status: NEW29 There was a second mutation in the last base coding exon 18 that led to substitution of arginine for glycine in codon 1002 (G1002R).
X
ABCA3 p.Gly1002Arg 19252731:29:88
status: NEWX
ABCA3 p.Gly1002Arg 19252731:29:124
status: NEW