De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene

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De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/BF00209412
P698PubMed publication ID7860075

P50authorXavier Estivill i PallejàQ9096554
Marisa GirósQ58827809
P2093author name stringC O Sarde
J L Mandel
A Barceló
T Pàmpols
G Pintos
P2860cites workPutative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transportersQ24321939
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy geneQ24628731
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndromeQ28207783
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophyQ28237129
Genomic organization of the adrenoleukodystrophy geneQ28240695
The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamilyQ28255277
Adrenoleukodystrophy: phenotypic variability and implications for therapyQ35848823
Identification of a new frameshift mutation (1801delAG) in the ALD geneQ57304766
Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish populationQ57304784
Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD geneQ61763896
Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophyQ72748110
P433issue2
P304page(s)235-237
P577publication date1995-02-01
P1433published inHuman GeneticsQ5937167
P1476titleDe novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene
P478volume95

Reverse relations

Q28569176Molecular cloning of cDNA encoding rat very long-chain acyl-CoA synthetasecites workP2860

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