scholarly journals XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms

DNA Repair ◽  
2009 ◽  
Vol 8 (1) ◽  
pp. 114-125 ◽  
Author(s):  
Sikandar G. Khan ◽  
Kyu-Seon Oh ◽  
Steffen Emmert ◽  
Kyoko Imoto ◽  
Deborah Tamura ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Neurological Symptoms ◽  
Initiation Codon ◽  
Codon Mutation

scholarly journals Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms

2019 ◽  
Vol 176 (22) ◽  
pp. 4293-4301 ◽  
Author(s):  
Rosella Abeti ◽  
Anna Zeitlberger ◽  
Colm Peelo ◽  
Hiva Fassihi ◽  
Robert P E Sarkany ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Therapeutic Strategies ◽  
Neurological Symptoms ◽  
Novel Therapeutic Strategies ◽  
Novel Therapeutic

scholarly journals Neurological symptoms and natural course of xeroderma pigmentosum

Brain ◽  
2008 ◽  
Vol 131 (8) ◽  
pp. 1979-1989 ◽  
Author(s):  
A. Anttinen ◽  
L. Koulu ◽  
E. Nikoskelainen ◽  
R. Portin ◽  
T. Kurki ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Neurological Symptoms ◽  
Natural Course

A Rare Association of α0-Thalassemia (– –SEA) and an Initiation Codon Mutation (ATG→A-G) of the α2 Gene Causes Hb H Disease in Thailand

Hemoglobin ◽  
2005 ◽  
Vol 29 (3) ◽  
pp. 235-240 ◽  
Author(s):  
Vip Viprakasit ◽  
Worrawut Chinchang ◽  
Waraporn Glomglao ◽  
Voravarn S Tanphaichitr
Keyword(s):  
Initiation Codon ◽  
Rare Association ◽  
Hb H Disease ◽  
Codon Mutation

An alpha-2 Globin Gene Initiation Codon Mutation in a Vietnamese Patient with Hb H Disease

1998 ◽  
Vol 850 (1 COOLEY'S ANEM) ◽  
pp. 398-400
Author(s):  
F. KUTLAR ◽  
T. V. ADAMKIEWICZ ◽  
R. B. MARKOWITZ ◽  
L. HOLLEY ◽  
A. KUTLAR
Keyword(s):  
Globin Gene ◽  
Initiation Codon ◽  
Hb H Disease ◽  
Codon Mutation

A novel initiation codon mutation of PAX9 in a family with oligodontia

2016 ◽  
Vol 61 ◽  
pp. 144-148 ◽  
Author(s):  
Jia Liang ◽  
Chuanqi Qin ◽  
Haitang Yue ◽  
Hong He ◽  
Zhuan Bian
Keyword(s):  
Initiation Codon ◽  
Codon Mutation

scholarly journals The Cerebro-Morphological Fingerprint of a Progeroid Syndrome: White Matter Changes Correlate with Neurological Symptoms in Xeroderma Pigmentosum

PLoS ONE ◽  
2012 ◽  
Vol 7 (2) ◽  
pp. e30926 ◽  
Author(s):  
Jan Kassubek ◽  
Anne-Dorte Sperfeld ◽  
Elmar H. Pinkhardt ◽  
Alexander Unrath ◽  
Hans-Peter Müller ◽  
...  
Keyword(s):  
White Matter ◽  
Xeroderma Pigmentosum ◽  
Neurological Symptoms ◽  
White Matter Changes ◽  
Progeroid Syndrome
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