Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

scientific article (publication date: February 2002)

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1009857064
P356DOI10.1046/J.0022-202X.2001.01664.X
P698PubMed publication ID11841538
P5875ResearchGate publication ID11518652

P2093author name stringJohn A McGrath
Neil V Whittock
Robin A J Eady
W H Irwin McLean
Angela M Christiano
Maria C Garzon
Hong Wan
Leena Pulkkinen
Patrice Hyde
Susan M Morley
Leonard Kristal
Juoni Uitto
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectheterozygosityQ124059385
P304page(s)232-8
P577publication date2002-02-01
P1433published inJournal of Investigative DermatologyQ3186921
P1476titleCompound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
P478volume118

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cites work (P2860)
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