ABCA12 p.Ile1494Thr

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PMID: 21729033 [PubMed] Fukuda S et al: "Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma."
No. Sentence Comment
63 Only three of 17 mutations (p.Asn1380Ser, p.Ile1494Thr and p.Arg1514His) were located in the first nucleotide-binding folds.
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ABCA12 p.Ile1494Thr 21729033:63:44
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PMID: 21695020 [PubMed] Akiyama M et al: "The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis."
No. Sentence Comment
36 One patient was homozygous for the splice site mutation c.3295-2A>G4 and another was compound heterozygous for p.Ser387Asn and p.Thr1387del.29 Only one heterozygous mutation, p.Ile1494Thr, was identified in the other patient.30 Cultured keratinocytes from all three patients showed apparently disturbed glucosylceramide transport, although this assay is not quantitative.
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ABCA12 p.Ile1494Thr 21695020:36:177
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37 One patient was homozygous for the splice site mutation c.3295-2A>G4 and another was compound heterozygous for p.Ser387Asn and p.Thr1387del.29 Only one heterozygous mutation, p.Ile1494Thr, was identified in the other patient.30 Cultured keratinocytes from all three patients showed apparently disturbed glucosylceramide transport, although this assay is not quantitative.
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ABCA12 p.Ile1494Thr 21695020:37:177
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PMID: 20672373 [PubMed] Akiyama M et al: "ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts."
No. Sentence Comment
107 Only one heterozygous mutation p.Ile1494Thr was identified in the other patient [Natsuga et al., 2007].
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ABCA12 p.Ile1494Thr 20672373:107:33
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PMID: 19262603 [PubMed] Sakai K et al: "ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma."
No. Sentence Comment
45 (À) This study NBCIE8 52 M p.[Arg1514His]+[=] (À) This study NBCIE9 0 M (À) p.[Arg389His]+c.[2111delA] Akiyama et al. (2001a) NBCIE10 37 F p.[Thr345Pro]+[=] (À) Natsuga et al. (2007) NBCIE11 42 M p.[Ile1494Thr]+[?]
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ABCA12 p.Ile1494Thr 19262603:45:199
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ABCA12 p.Ile1494Thr 19262603:45:219
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PMID: 23954554 [PubMed] Akiyama M et al: "The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation."
No. Sentence Comment
84 Only one heterozygous mutation, p.Ile1494Thr, was identified in the other patient [39].
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ABCA12 p.Ile1494Thr 23954554:84:34
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