(Q28200853)

English

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

scientific article (publication date: February 2002)

Statements

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome (English)
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Neil V Whittock
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Hong Wan
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Susan M Morley
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Maria C Garzon
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Leonard Kristal
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Patrice Hyde
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W H Irwin McLean
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Leena Pulkkinen
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Juoni Uitto
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Angela M Christiano
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Robin A J Eady
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John A McGrath
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February 2002
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118
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232-8
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2
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