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The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin Diseases.

Abstract The discovery of pathogenic mutations in inherited skin diseases represents one of the major landmarks of late 20th century molecular genetics. Mutation data can provide accurate diagnoses, improve genetic counseling, help define disease mechanisms, establish disease models, and provide a basis for translational research and testing of novel therapeutics. The process of detecting disease mutations, however, has not always been straightforward. Traditional approaches using genetic linkage or candidate gene analysis have often been limited, costly, and slow to yield new insights, but the advent of next-generation sequencing (NGS) technologies has altered the landscape of current gene discovery and mutation detection approaches.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title the journal of investigative dermatology
Publication Year Start




PMID- 28411852
OWN - NLM
STAT- In-Process
DA  - 20170416
LR  - 20170416
IS  - 1523-1747 (Electronic)
IS  - 0022-202X (Linking)
VI  - 137
IP  - 5
DP  - 2017 May
TI  - The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for
      Inherited Skin Diseases.
PG  - e83-e86
LID - S0022-202X(16)32781-6 [pii]
LID - 10.1016/j.jid.2016.02.819 [doi]
AB  - The discovery of pathogenic mutations in inherited skin diseases represents one
      of the major landmarks of late 20th century molecular genetics. Mutation data can
      provide accurate diagnoses, improve genetic counseling, help define disease
      mechanisms, establish disease models, and provide a basis for translational
      research and testing of novel therapeutics. The process of detecting disease
      mutations, however, has not always been straightforward. Traditional approaches
      using genetic linkage or candidate gene analysis have often been limited, costly,
      and slow to yield new insights, but the advent of next-generation sequencing
      (NGS) technologies has altered the landscape of current gene discovery and
      mutation detection approaches.
CI  - Copyright (c) 2017 The Author. Published by Elsevier Inc. All rights reserved.
FAU - McGrath, John A
AU  - McGrath JA
AD  - Genetic Skin Disease Group, King's College London (Guy's Campus), London, UK.
      Electronic address: [email protected]
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
EDAT- 2017/04/17 06:00
MHDA- 2017/04/17 06:00
CRDT- 2017/04/17 06:00
PHST- 2015/09/04 [received]
PHST- 2016/02/02 [revised]
PHST- 2016/02/08 [accepted]
AID - S0022-202X(16)32781-6 [pii]
AID - 10.1016/j.jid.2016.02.819 [doi]
PST - ppublish
SO  - J Invest Dermatol. 2017 May;137(5):e83-e86. doi: 10.1016/j.jid.2016.02.819.

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