Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports. - Wikidata - awgldk - TriplyDB

Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.

Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.

http://www.wikidata.org/entity/Q33869150

about

Localization of acetylcholine-related molecules in the retina: implication of the communication from photoreceptor to retinal pigment epithelium Mal de Meleda with Congenital Cataract: A Novel Case Report.The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.Comorbidity in the Tunisian population.Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region Immunohistological study of tight junction protein expression in mal de Meleda.Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.Palmoplantar Keratoderma with Keratoconus.

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P2860

Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.

http://www.wikidata.org/entity/Q33869150

description

2010 nî lūn-bûn

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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2010 թվականի ապրիլին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Journal of Medical Case Reports

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Coexistence of mal de Meleda a ...... sian family: two case reports.

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Ahlem Merdassi

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Amel Dhahri-Ben Osman

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Cherine Charfeddine

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Farah Ouechtati

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Fatma Mgaieth

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Hamouda Boussen

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Ibtissem Chouchene

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Leila Elmatri

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Mbarka Bchetnia

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Med Samir Boubaker

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P2860

Mutations in the gene encoding SLURP-1 in Mal de Meleda

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.

The genetics of childhood cataract

A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.

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