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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
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 and Sons Ltd
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
2008-07-17 08:36:52
date last changed
2017-01-01 04:23:27
@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},
  keyword      = {lamellar ichthyosis,prenatal diagnosis,DNA},
  language     = {eng},
  number       = {5},
  pages        = {483--486},
  publisher    = {John Wiley and Sons Ltd},
  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},
  volume       = {17},
  year         = {1997},
}