Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT).
about
Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia.Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy.A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.
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Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT).
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 13 January 2017
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Diagnosis for choroideremia in ...... asive prenatal testing (NIPT).
@en
Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing
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type
label
Diagnosis for choroideremia in ...... asive prenatal testing (NIPT).
@en
Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing
@nl
prefLabel
Diagnosis for choroideremia in ...... asive prenatal testing (NIPT).
@en
Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing
@nl
P2093
P2860
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P1476
Diagnosis for choroideremia in ...... vasive prenatal testing (NIPT)
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Chunli Wei
Dong Jiang
Jingliang Cheng
Weichan Yang
Xiaojun Tan
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P356
10.3892/MMR.2017.6119
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P577
2017-01-13T00:00:00Z