ABCA12 p.Thr1575Pro
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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."
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27
Patient 1 had compound heterozygosity of missense /small deletion mutations [(p.Thr1575Pro)+(c.6031delG)].
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ABCA12 p.Thr1575Pro 21729033:27:80
status: NEW29 Patient 4 had compound heterozygosity Table 1 Summary of mutation analysis of ABCA12 in the present study Patient Age, sex Mutation Maternal Paternal 1 3 years, girl Compound heterozygous p.Thr1575Pro (c.4723A>C) c.6031delG 2 9 years, girl Compound heterozygous p.Arg986Trp (c.2956C>T) c.5940-1G>C 3 4 months, boy Compound heterozygous p.Asn1380Ser (c.4139A>G) c.5128+3A>G 4 3 months, boy Compound heterozygous p.Thr1575Pro (c.4723A>C) p.Gly1651Ser (c.4951G>A) (a) (b) (c) (d) (e) Fig 1.
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ABCA12 p.Thr1575Pro 21729033:29:190
status: NEWX
ABCA12 p.Thr1575Pro 21729033:29:413
status: NEW35 Ó 2011 The Authors BJD Ó 2011 British Association of Dermatologists 2012 166, pp212-235 Correspondence of missense mutations [(p.Thr1575Pro)+(p.Gly1651Ser)].
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ABCA12 p.Thr1575Pro 21729033:35:141
status: NEW37 Five mutations (p.Thr1575Pro, c.6031delG, p.Arg986Trp, c.5940-1G>C and c.5128+3A>G) have not been reported previously.
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ABCA12 p.Thr1575Pro 21729033:37:18
status: NEW65 The mutation p.Thr1575Pro was identified in two unrelated patients with different clinical severity.
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ABCA12 p.Thr1575Pro 21729033:65:15
status: NEW