PMID: 23768953

Petrillo S, Piemonte F, Pastore A, Tozzi G, Aiello C, Pujol A, Cappa M, Bertini E
Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
Mol Genet Metab. 2013 Aug;109(4):366-70. doi: 10.1016/j.ymgme.2013.05.009. Epub 2013 May 22., [PubMed]
Sentences
No. Mutations Sentence Comment
74 ABCD1 p.Pro143Ser
X
ABCD1 p.Pro143Ser 23768953:74:231
status: NEW
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ABCD1 p.Arg418Trp
X
ABCD1 p.Arg418Trp 23768953:74:297
status: NEW
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ABCD1 p.Ser514Arg
X
ABCD1 p.Ser514Arg 23768953:74:487
status: NEW
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ABCD1 p.Gln307*
X
ABCD1 p.Gln307* 23768953:74:108
status: NEW
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ABCD1 p.His669Arg
X
ABCD1 p.His669Arg 23768953:74:202
status: NEW
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ABCD1 p.Glu630Lys
X
ABCD1 p.Glu630Lys 23768953:74:140
status: NEW
view ABCD1 p.Glu630Lys details
 Subject Age (years) Phenotype Mutation HAAM 4 CCALD c.1415_1416delAG (p.Q472RfsX83) AM 24 CCALD c.919C>T (p.Q307X) SM 16 CCALD c.1888G>A (p.E630K) ON 11 CCALD c.1628C>T (p.P543L) MG 62 AMN c.2006A>G (p.H669R) AG 33 AMN c.427C>T (p.P143S) BM 64 AMN c.1382delT (p.L461RfsX97) PF 54 AMN c.1252C>T (p.R418W) RN 61 AMN c.1415_1416delAG (p.Q472RfsX83) ME 20 AMN c.442_444 del 3(AAC)/ins6 (TGTTGA) (p.N148CfsX1) SF 40 AMN c.442_444 del 3(AAC)/ins6 (TGTTGA) (p.N148CfsX1) LM 54 AMN c.1540A>C (p.S514R) LF 43 AMN c.1415_1416delAG (p.Q472RfsX83) LM 40 AMN c.1415_1416delAG (p.Q472RfsX83) 2.5. Login to comment