CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
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Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.Gene Therapy for Color Blindness.Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
P2860
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
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2017 nî lūn-bûn
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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
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label
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
@en
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
@nl
prefLabel
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
@en
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
@nl
P2093
P2860
P50
P356
P1433
P1476
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
@en
P2093
ACHM Study Group
Bernd Wissinger
Britta Baumann
Christine Rother
Peggy Reuter
P2860
P304
P356
10.1002/HUMU.23311
P577
2017-08-28T00:00:00Z