ABCD1 p.Lys513Gln
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PMID: 17509471
[PubMed]
Liu YT et al: "A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy."
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2
Direct sequencing for the ABCD1 gene of this patient and his mother detected a novel missense mutation, K513Q, in exon 6, the first such detected in a Taiwanese patient.
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ABCD1 p.Lys513Gln 17509471:2:104
status: NEW4 K513Q is also the first novel mutation located within exon 6 and presenting with adult-onset adrenomyeloneuropathy in Chinese-Taiwanese.
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ABCD1 p.Lys513Gln 17509471:4:0
status: NEW22 This patient had positive family history and a novel point mutation in exon 6 of the ABCD1 gene (K513Q).
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ABCD1 p.Lys513Gln 17509471:22:97
status: NEW39 Sequencing of the ABCD1 gene revealed a novel point mutation, K513Q, in exon 6.
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ABCD1 p.Lys513Gln 17509471:39:62
status: NEW49 Results For the present patient, DNA sequencing of the complete coding region of the ABCD1 gene yielded a missense mutation (K513Q) caused by cDNA nucleotide change 1923AϾC in exon 6.
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ABCD1 p.Lys513Gln 17509471:49:125
status: NEW57 The present patient manifested a novel and unique missense mutation (K513Q) in exon 6, within the ATP-binding domain.
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ABCD1 p.Lys513Gln 17509471:57:69
status: NEW66 Mutation A1923C/Lys513Gln is shown in the central part of the top and bottom sequences.
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ABCD1 p.Lys513Gln 17509471:66:16
status: NEW76 A novel missense mutation (K513Q) was identified in two members of one Taiwanese family, the first such private disease-causing mutation that we know of in a Taiwanese population.
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ABCD1 p.Lys513Gln 17509471:76:27
status: NEW21 This patient had positive family history and a novel point mutation in exon 6 of the ABCD1 gene (K513Q).
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ABCD1 p.Lys513Gln 17509471:21:97
status: NEW37 Sequencing of the ABCD1 gene revealed a novel point mutation, K513Q, in exon 6.
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ABCD1 p.Lys513Gln 17509471:37:62
status: NEW47 Results For the present patient, DNA sequencing of the complete coding region of the ABCD1 gene yielded a missense mutation (K513Q) caused by cDNA nucleotide change 1923Ab0e;C in exon 6.
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ABCD1 p.Lys513Gln 17509471:47:125
status: NEW55 The present patient manifested a novel and unique missense mutation (K513Q) in exon 6, within the ATP-binding domain.
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ABCD1 p.Lys513Gln 17509471:55:69
status: NEW64 Mutation A1923C/Lys513Gln is shown in the central part of the top and bottom sequences.
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ABCD1 p.Lys513Gln 17509471:64:16
status: NEW74 A novel missense mutation (K513Q) was identified in two members of one Taiwanese family, the first such private disease-causing mutation that we know of in a Taiwanese population.
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ABCD1 p.Lys513Gln 17509471:74:27
status: NEW