scholarly journals Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

1998 ◽  
Vol 6 (6) ◽  
pp. 589-596 ◽  
Author(s):  
Maritta Pigg ◽  
Tobias Gedde-Dahl Jr ◽  
Diane Cox ◽  
Ingrid Haußer ◽  
Ingrun Anton-Lamprecht ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Founder Effect ◽  
Lamellar Ichthyosis ◽  
Strong Founder Effect ◽  
Transglutaminase 1 ◽  
Congenital Ichthyosiform Erythroderma

Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis

2000 ◽  
Vol 24 (2) ◽  
pp. 119-125 ◽  
Author(s):  
Shinichi Yotsumoto ◽  
Masashi Akiyama ◽  
Kozo Yoneda ◽  
Tomoko Fukushige ◽  
Keiko Kobayashi ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Japanese Patient ◽  
Lamellar Ichthyosis ◽  
Transglutaminase 1 ◽  
Ultrastructural Characteristics

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidenceof a founder effect

2018 ◽  
Author(s):  
Dorra Ghorbel ◽  
Faten Hadjkacem ◽  
Fatma Mnif ◽  
Fatma Loukil ◽  
Mouna Mnif ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Founder Effect ◽  
Thyroid Dyshormonogenesis

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

1995 ◽  
Vol 9 (3) ◽  
pp. 279-283 ◽  
Author(s):  
Laura J. Russell ◽  
John J. DiGiovanna ◽  
Geraldine R. Rogers ◽  
Peter M. Steinert ◽  
Nemat Hashem ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Lamellar Ichthyosis ◽  
Transglutaminase 1

scholarly journals A strong founder effect for twoNLRP7mutations in the Indian population: an intriguing observation

2009 ◽  
Vol 76 (3) ◽  
pp. 292-295 ◽  
Author(s):  
R Slim ◽  
R Bagga ◽  
W Chebaro ◽  
R Srinivasan ◽  
N Agarwal
Keyword(s):  
Founder Effect ◽  
Indian Population ◽  
Strong Founder Effect

New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis

2009 ◽  
Vol 34 (8) ◽  
pp. 904-909 ◽  
Author(s):  
X. Cao ◽  
Z. Lin ◽  
H. Yang ◽  
D. Bu ◽  
P. Tu ◽  
...  
Keyword(s):  
Lamellar Ichthyosis ◽  
Transglutaminase 1 ◽  
New Mutations

Lamellar Ichthyosis: Response to Etretinate With Transglutaminase 1 Recovery

2000 ◽  
Vol 22 (3) ◽  
pp. 277-280 ◽  
Author(s):  
Ken Hashimoto ◽  
Suzanne Gee ◽  
Kazuaki Tanaka
Keyword(s):  
Lamellar Ichthyosis ◽  
Transglutaminase 1

scholarly journals Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis

2012 ◽  
Vol 3 (10) ◽  
pp. e416-e416 ◽  
Author(s):  
A Terrinoni ◽  
V Serra ◽  
A Codispoti ◽  
E Talamonti ◽  
L Bui ◽  
...  
Keyword(s):  
Lamellar Ichthyosis ◽  
Transglutaminase 1

Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families

Neurology ◽  
1999 ◽  
Vol 52 (4) ◽  
pp. 849-849 ◽  
Author(s):  
M. Dichgans ◽  
L. Schols ◽  
J. Herzog ◽  
G. Stevanin ◽  
H. Weirich-Schwaiger ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Founder Effect ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Strong Founder Effect
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