Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

about

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

Item

http://www.wikidata.org/entity/Q47356323

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Heterozygous SSBP1 start loss ...... arge multigenerational family.

@en

Heterozygous SSBP1 start loss ...... arge multigenerational family.

@nl

type

Item

label

Heterozygous SSBP1 start loss ...... arge multigenerational family.

@en

Heterozygous SSBP1 start loss ...... arge multigenerational family.

@nl

prefLabel

Heterozygous SSBP1 start loss ...... arge multigenerational family.

@en

Heterozygous SSBP1 start loss ...... arge multigenerational family.

@nl

P1476

Heterozygous SSBP1 start loss ...... arge multigenerational family.

@en

P2093

Aurora Gomez-Duran

http://www.w3.org/2001/XMLSchema#string

Caterina Garone

http://www.w3.org/2001/XMLSchema#string

Julio Montoya

http://www.w3.org/2001/XMLSchema#string

Kari Majamaa

http://www.w3.org/2001/XMLSchema#string

Mikko Kärppä

http://www.w3.org/2001/XMLSchema#string

Peter J Kullar

http://www.w3.org/2001/XMLSchema#string

Sanna Häkli

http://www.w3.org/2001/XMLSchema#string

Zoe Golder

http://www.w3.org/2001/XMLSchema#string

P2860

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

In vivo occupancy of mitochondrial single-stranded DNA binding protein supports the strand displacement mode of DNA replication

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

MutationTaster evaluates disease-causing potential of sequence alterations

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.

Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study.

P304

55-62

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1093/BRAIN/AWX295

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

141

http://www.w3.org/2001/XMLSchema#string

P50

P577

2018-01-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

29182774

http://www.w3.org/2001/XMLSchema#string

P932

5837410

http://www.w3.org/2001/XMLSchema#string