A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
about
Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™DNA repair diseases: What do they tell us about cancer and aging?Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutationsA novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathologyc.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTGFounder mutations in xeroderma pigmentosum.Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility.Xeroderma pigmentosum in an African-American.A review of UVB-mediated photosensitivity disorders.Predominant role of DNA polymerase eta and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells.Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.A unique chromosomal in-frame deletion identified among seven XP-C patients.Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.Progressive ataxia associated with scarring skin lesions and vertical gaze palsy.Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia
P2860
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P2860
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A prevalent mutation with foun ...... sum group C from north Africa.
@ast
A prevalent mutation with foun ...... sum group C from north Africa.
@en
A prevalent mutation with foun ...... sum group C from north Africa.
@nl
type
label
A prevalent mutation with foun ...... sum group C from north Africa.
@ast
A prevalent mutation with foun ...... sum group C from north Africa.
@en
A prevalent mutation with foun ...... sum group C from north Africa.
@nl
prefLabel
A prevalent mutation with foun ...... sum group C from north Africa.
@ast
A prevalent mutation with foun ...... sum group C from north Africa.
@en
A prevalent mutation with foun ...... sum group C from north Africa.
@nl
P2093
P50
P356
P1476
A prevalent mutation with foun ...... sum group C from north Africa.
@en
P2093
Agnes Bourillon
Alain Sarasin
Alain Taieb
Anne Stary
Bakar Bouadjar
Bernard Grandchamp
Cécile Chemin
Daniele Pham
Hakima Benchiki
Hubert de Verneuil
P2888
P304
P356
10.1038/JID.2009.409
P407
P577
2010-01-07T00:00:00Z
P5875
P6179
1014794124