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Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene

Schorderet, D F ; Huber, M ; Laurini, Ricardo LU ; Von Moos, G ; Gianadda, B ; Deleze, G and Hohl, D (1997) In Prenatal Diagnosis 17(5). p.483-486
Abstract
Autosomal recessive lamellar ichthyosis (LI) is a rare inherited disease of cornification of the skin. Recently, the gene responsible for type I LI has been identified and mutations have been described. The identification of mutations in families at risk for LI allows a precise and rapid prenatal diagnosis. A family with a previously unreported mutation is described and a prenatal diagnosis based on a simple polymerase chain reaction (PCR) approach is outlined. The molecular diagnosis was confirmed on post-mortem examination of the skin.
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author
; ; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
keywords
lamellar ichthyosis, prenatal diagnosis, DNA
in
Prenatal Diagnosis
volume
17
issue
5
pages
483 - 486
publisher
John Wiley & Sons Inc.
external identifiers
  • pmid:9178327
  • scopus:0030913967
ISSN
1097-0223
DOI
10.1002/(SICI)1097-0223(199705)17:5<483::AID-PD80>3.0.CO;2-4
language
English
LU publication?
no
id
9e1f9e23-19b1-46a8-a2da-af42997f82c9 (old id 1112545)
date added to LUP
2016-04-01 11:38:02
date last changed
2022-01-26 07:54:20
@article{9e1f9e23-19b1-46a8-a2da-af42997f82c9,
  abstract     = {{Autosomal recessive lamellar ichthyosis (LI) is a rare inherited disease of cornification of the skin. Recently, the gene responsible for type I LI has been identified and mutations have been described. The identification of mutations in families at risk for LI allows a precise and rapid prenatal diagnosis. A family with a previously unreported mutation is described and a prenatal diagnosis based on a simple polymerase chain reaction (PCR) approach is outlined. The molecular diagnosis was confirmed on post-mortem examination of the skin.}},
  author       = {{Schorderet, D F and Huber, M and Laurini, Ricardo and Von Moos, G and Gianadda, B and Deleze, G and Hohl, D}},
  issn         = {{1097-0223}},
  keywords     = {{lamellar ichthyosis; prenatal diagnosis; DNA}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{483--486}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Prenatal Diagnosis}},
  title        = {{Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene}},
  url          = {{http://dx.doi.org/10.1002/(SICI)1097-0223(199705)17:5<483::AID-PD80>3.0.CO;2-4}},
  doi          = {{10.1002/(SICI)1097-0223(199705)17:5<483::AID-PD80>3.0.CO;2-4}},
  volume       = {{17}},
  year         = {{1997}},
}