PMID: 24719134

Park HJ, Shin HY, Kang HC, Choi BO, Suh BC, Kim HJ, Choi YC, Lee PH, Kim SM
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
Yonsei Med J. 2014 May;55(3):676-82. doi: 10.3349/ymj.2014.55.3.676. Epub 2014 Apr 1., [PubMed]
Sentences
No. Mutations Sentence Comment
89 ABCD1 p.Pro560Leu
X
ABCD1 p.Pro560Leu 24719134:89:407
status: NEW
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ABCD1 p.Pro560Leu
X
ABCD1 p.Pro560Leu 24719134:89:520
status: NEW
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ABCD1 p.Arg554His
X
ABCD1 p.Arg554His 24719134:89:699
status: NEW
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ABCD1 p.Arg389His
X
ABCD1 p.Arg389His 24719134:89:230
status: NEW
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ABCD1 p.Leu160Pro
X
ABCD1 p.Leu160Pro 24719134:89:172
status: NEW
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ABCD1 p.Ala141Thr
X
ABCD1 p.Ala141Thr 24719134:89:346
status: NEW
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 The Mutational Analysis of Korean Patients with Adrenomyeloneuropathy Exon Mutation Allele Type Reference Adrenomyeloneuropathy without cerebral involvement 1 1 c.479T>C p.Leu160Pro Missense Sutovsk&#fd;, et al.13 2 3 c.1166G>A p.Arg389His Missense Kok, et al.14 3 9 c.1970_72del p.Ile657del In-frame deletion Ligtenberg, et al.15 4 1 c.421G>A p.Ala141Thr Missense Kok, et al.14 5 Not found 6 7 c.1679C>T p.Pro560Leu Missense Kemp, et al.6 7 Not available Adrenomyeloneuropathy with cerebral involvement 8 7 c.1679C>T p.Pro560Leu Missense Kemp, et al.6 9 1 c.225_242del p.Trp77_Leu82del Deletion Lee, et al.9 Spinocerebellar phenotype 10 1 c.277_296dup20 p.Leu93fs Frameshift Novel 11 7 c.1661G>A p.Arg554His Missense Kemp, et al.6 12 IVS1 c.901-1G>A p.Val301fs Frameshift Kemp, et al.6 IVS, intervening sequence. Login to comment