The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
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Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyMutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
P2860
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
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The familial dementia gene rev ...... l dystrophy in a large family.
@en
type
label
The familial dementia gene rev ...... l dystrophy in a large family.
@en
prefLabel
The familial dementia gene rev ...... l dystrophy in a large family.
@en
P2093
P2860
P50
P356
P1476
The familial dementia gene rev ...... al dystrophy in a large family
@en
P2093
Aline Antonio
Christelle Michiels
Elise Orhan
Hoan Nguyen
Hélène Dollfus
Jean-Paul Saraiva
Marie-Elise Lancelot
Melanie Letexier
Olivier Poch
Saddek Mohand-Saïd
P2860
P304
P356
10.1093/HMG/DDT439
P50
P577
2013-09-10T00:00:00Z