Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
about
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafnessHigh frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control.Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutationsProof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutationsGenetics of congenital adrenal hyperplasia.High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.Epidemiology of muscular dystrophies in the Mediterranean area.Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia.CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia.Deletion of late cornified envelope genes, LCE3C_LCE3B-del, is not associated with psoriatic arthritis in Tunisian patients.Phylogeny and genetic structure of Tunisians and their position within Mediterranean populations.Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.Comorbidity in the Tunisian population.Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.Genetics and genomic medicine in Tunisia.
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P2860
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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2012年學術文章
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name
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
@ast
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
@en
type
label
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
@ast
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
@en
prefLabel
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
@en
P2093
P2860
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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
@en
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Hela Azaiez
Lilia Romdhane
Nizar Ben Halim
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P2888
P356
10.1186/1750-1172-7-52
P577
2012-08-21T00:00:00Z
P5875
P6179
1034304548