ABCA12 p.Val1089Phe
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PMID: 21339420
[PubMed]
Rajpopat S et al: "Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases."
No.
Sentence
Comment
177
In our series, 2 missense mutations were identified, namely V1089F in exon 23 combined with a splice site mutation in exon 33 in one patient, and G1179R (homozygous) in exon 24 of another patient.
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ABCA12 p.Val1089Phe 21339420:177:60
status: NEW179 In our series, 2 missense mutations were identified, namely V1089F in exon 23 combined with a splice site mutation in exon 33 in one patient, and G1179R (homozygous) in exon 24 of another patient.
X
ABCA12 p.Val1089Phe 21339420:179:60
status: NEW