Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
about
Alström Syndrome: Mutation Spectrum of ALMS1.Clinical utility gene card for: Alström Syndrome - update 2013.Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
P2860
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
description
2012 nî lūn-bûn
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name
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
@ast
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
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type
label
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
@ast
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
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prefLabel
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
@ast
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
@en
P2093
P2860
P1433
P1476
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families
@en
P2093
Carmen Ayuso
Diana Valverde
Montserrat Baiget
Teresa Piñeiro-Gallego
P2860
P304
P50
P577
2012-07-03T00:00:00Z