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Volumn 129, Issue 10, 2009, Pages 2512-2515

A missense mutation in TGM5 causes acral peeling skin syndrome in a tunisian family

Author keywords

[No Author keywords available]

Indexed keywords

DNA; KERATIN; KERATOHYALIN; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 3; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 5; UNCLASSIFIED DRUG;

EID: 70349140571     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2009.118     Document Type: Letter
Times cited : (32)

References (18)
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  • 3
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  • 5
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    • A homozygous missense mutation in TGM5 abolishes epidermal transglutami-nase 5 activity and causes acral peeling skin syndrome.
    • Cassidy AJ, van Steensel MAM, Steijlen PM, van Geel M, van der Velden J, Susan M et al. (2005) A homozygous missense mutation in TGM5 abolishes epidermal transglutami-nase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet 77:909-917
    • (2005) Am J Hum Genet , vol.77 , pp. 909-917
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  • 13
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.