ABCMdb

PMID: 17509471

Liu YT, Lin KH, Soong BW, Liao KK, Lin KP
A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy.
Pediatr Neurol. 2007 May;36(5):348-50., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCD1 p.Lys513Gln 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. Login to comment 4 ABCD1 p.Lys513Gln K513Q is also the first novel mutation located within exon 6 and presenting with adult-onset adrenomyeloneuropathy in Chinese-Taiwanese. Login to comment 21 ABCD1 p.Lys513Gln This patient had positive family history and a novel point mutation in exon 6 of the ABCD1 gene (K513Q). Login to comment 22 ABCD1 p.Lys513Gln This patient had positive family history and a novel point mutation in exon 6 of the ABCD1 gene (K513Q). Login to comment 37 ABCD1 p.Lys513Gln Sequencing of the ABCD1 gene revealed a novel point mutation, K513Q, in exon 6. Login to comment 39 ABCD1 p.Lys513Gln Sequencing of the ABCD1 gene revealed a novel point mutation, K513Q, in exon 6. Login to comment 47 ABCD1 p.Lys513Gln 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. Login to comment 49 ABCD1 p.Lys513Gln 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. Login to comment 55 ABCD1 p.Lys513Gln The present patient manifested a novel and unique missense mutation (K513Q) in exon 6, within the ATP-binding domain. Login to comment 57 ABCD1 p.Lys513Gln The present patient manifested a novel and unique missense mutation (K513Q) in exon 6, within the ATP-binding domain. Login to comment 64 ABCD1 p.Lys513Gln Mutation A1923C/Lys513Gln is shown in the central part of the top and bottom sequences. Login to comment 66 ABCD1 p.Lys513Gln Mutation A1923C/Lys513Gln is shown in the central part of the top and bottom sequences. Login to comment 68 ABCD1 p.Gln556Arg Only 1 of the 40 patients presented with adrenomyeloneuropathy; this patient had one missense mutation in exon 7 (Q556R) [4]. Login to comment 70 ABCD1 p.Gln556Arg Only 1 of the 40 patients presented with adrenomyeloneuropathy; this patient had one missense mutation in exon 7 (Q556R) [4]. Login to comment 74 ABCD1 p.Lys513Gln 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. Login to comment 76 ABCD1 p.Lys513Gln 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. Login to comment