PMID: 24722136

Karapanou O, Vlassopoulou B, Tzanela M, Papadopoulos D, Angelidakis P, Michelakakis H, Ioannidis G, Mihalatos M, Kamakari S, Tsagarakis S
X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
Hormones (Athens). 2014 Jan-Mar;13(1):146-52., [PubMed]
Sentences
No. Mutations Sentence Comment
60 ABCD1 p.Tyr174Cys
X
ABCD1 p.Tyr174Cys 24722136:60:52
status: NEW
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 This is a previously reported missense pathogenic p.Tyr174Cys mutation.8 Both brothers and the mother`s first and second degree male relatives were scheduled for plasma VLCFAs determination. Login to comment 79 ABCD1 p.Tyr174Ser
X
ABCD1 p.Tyr174Ser 24722136:79:111
status: NEW
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ABCD1 p.Tyr174Asp
X
ABCD1 p.Tyr174Asp 24722136:79:98
status: NEW
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ABCD1 p.Tyr174His
X
ABCD1 p.Tyr174His 24722136:79:85
status: NEW
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 Different amino acid substitutions of the tyrosine 174 have been reported, namely, p.Tyr174His, p.Tyr174Asp, p.Tyr174Ser (www.x-ald. Login to comment