Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity

scientific article

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1086/302063
P932PMC publication ID1377495
P698PubMed publication ID9758621

P2093author name stringStefanini M
Nardo T
Botta E
Lehmann AR
Marinoni S
Broughton BC
P4510describes a project that usesTTD8PVQ54973269
TTD10PVQ54973257
TTD11PVQ54973258
TTD1PVQ54973260
TTD2PVQ54973261
TTD3PVQ54973262
TTD4PVQ54973264
TTD6PVQ54973266
TTD7PVQ54973267
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectItalyQ38
patientQ181600
trichothiodystrophyQ102258404
cell lineQ21014462
P304page(s)1036-1048
P577publication date1998-10-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleAnalysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity
P478volume63

Reverse relations

described by source (P1343)
Q54973257TTD10PV
Q54973258TTD11PV
Q98133652TTD12PV
Q98133653TTD15PV
Q54973260TTD1PV
Q54973261TTD2PV
Q54973262TTD3PV
Q54973264TTD4PV
Q54973266TTD6PV
Q54973267TTD7PV
Q54973269TTD8PV
Q54973272TTDH10PV
Q54973273TTDH11PV
Q54973274TTDH12PV
Q54973275TTDH1PV
Q54973277TTDH2PV
Q54973279TTDH3PV
Q54973282TTDH5PV
Q54973283TTDH6PV
Q54973284TTDH7PV
Q54973285TTDH8PV
Q54973286TTDH9PV

cites work (P2860)
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