A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

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A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

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2017 nî lūn-bûn

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A novel RLBP1 gene geographica ...... h retinitis punctata albescens

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A novel RLBP1 gene geographica ...... h retinitis punctata albescens

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A novel RLBP1 gene geographica ...... h retinitis punctata albescens

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P1476

A novel RLBP1 gene geographica ...... h retinitis punctata albescens

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P2093

Antonina Sidoti

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Carmela Rinaldi

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Concetta Scimone

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Teresa Esposito

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P2860

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1

Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26

Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.

Estimating allele age.

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.

A review of the mechanisms of cone degeneration in retinitis pigmentosa.

Retinitis punctata albescens with pigmentation.

Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews.

Estimating the age of alleles by use of intraallelic variability.

P2888

s40246-017-0114-6

P304

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P31

scholarly article

P356

10.1186/S40246-017-0114-6

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P433

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P478

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P50

Rosalia D'Angelo

Luigi Donato

P577

2017-08-01T00:00:00Z

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P6179

1090935092

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P698

28764803

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P932

5540190

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