ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.

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Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

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ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.

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ALMS1 null mutations: a common ...... set severe cone-rod dystrophy.

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ALMS1 null mutations: a common ...... set severe cone-rod dystrophy.

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ALMS1 null mutations: a common ...... set severe cone-rod dystrophy.

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ALMS1 null mutations: a common ...... set severe cone-rod dystrophy.

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ALMS1 null mutations: a common ...... set severe cone-rod dystrophy.

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ALMS1 null mutations: a common ...... set severe cone-rod dystrophy.

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ALMS1 null mutations: a common ...... nset severe cone-rod dystrophy

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H Jiang

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J Wang

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J Zhang

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L Guan

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Q Zhang

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X Jia

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Alstrom syndrome (OMIM 203800): a case report and literature review

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes

Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases.

ISCEV standard for clinical pattern electroretinography (PERG): 2012 update.

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy.

New Alström syndrome phenotypes based on the evaluation of 182 cases.

Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.

Alström syndrome.

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

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442-447

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scholarly article

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10.1111/CGE.12617

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ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.

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P2860

P2860

ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.

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