An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred
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An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 20 April 2012
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
An incompletely penetrant nove ...... notypes in an extended kindred
@en
An incompletely penetrant nove ...... otypes in an extended kindred.
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type
label
An incompletely penetrant nove ...... notypes in an extended kindred
@en
An incompletely penetrant nove ...... otypes in an extended kindred.
@nl
prefLabel
An incompletely penetrant nove ...... notypes in an extended kindred
@en
An incompletely penetrant nove ...... otypes in an extended kindred.
@nl
P2093
P2860
P1476
An incompletely penetrant nove ...... notypes in an extended kindred
@en
P2093
Anita Farhi
Carol Nelson-Williams
Catherine S Yang
Earl J Glusac
Keith A Choate
Michael Kashgarian
Richard J Antaya
Richard P Lifton
P2860
P304
P356
10.1111/J.1525-1470.2012.01757.X
P577
2012-04-20T00:00:00Z