Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
about
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy.Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.CUGC for Duchenne muscular dystrophy (DMD).Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.Clinical Utility Gene Card for: Becker muscular dystrophy.
P2860
Q33558590-5333B1C3-D747-43B7-8087-1DFC8759D023Q37727544-4F965131-2157-41E4-9784-8312F513BEB7Q38599411-903604B5-29F9-4416-909E-9978CF4A3ABBQ38970186-D915537A-392B-48CD-B360-D2FCE37ED84CQ47822997-F692E09E-323F-43EC-92D5-D5F7C13D7BBFQ48017631-75405410-746F-48BA-A63F-C026F1322D6AQ50058206-D5CDA081-FF0D-4BE7-96BD-FE3152CC103CQ50207382-5F3DFDF5-54C8-41AF-B915-94A3E867D589Q52598175-3A84423D-7EBE-4ED6-A2CF-DDEE3E9CD08CQ54269189-F00A6470-4A7A-4FD6-B1F5-1B9E51590F77
P2860
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 25 February 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Genetic diagnosis of Duchenne/ ...... ion analysis of DMD mutations.
@en
Genetic diagnosis of Duchenne/ ...... ion analysis of DMD mutations.
@nl
type
label
Genetic diagnosis of Duchenne/ ...... ion analysis of DMD mutations.
@en
Genetic diagnosis of Duchenne/ ...... ion analysis of DMD mutations.
@nl
prefLabel
Genetic diagnosis of Duchenne/ ...... ion analysis of DMD mutations.
@en
Genetic diagnosis of Duchenne/ ...... ion analysis of DMD mutations.
@nl
P2093
P2860
P356
P1476
Genetic diagnosis of Duchenne/ ...... ion analysis of DMD mutations.
@en
P2093
Kanako Goto
Mariko Okubo
Narihiro Minami
Satomi Mitsuhashi
Satoru Noguchi
Yuichi Goto
P2860
P2888
P304
P356
10.1038/JHG.2016.7
P577
2016-02-25T00:00:00Z
P5875
P6179
1039238672