Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy. - Wikidata - wikimedia - TriplyDB

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

http://www.wikidata.org/entity/Q30316651

about

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.

P2860

Q38961648-69EA2E84-895D-4751-9523-3FD61CD2F742 Q38970382-52FFE6F6-B7A1-4D84-B9D8-2E5107B11327

P2860

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

http://www.wikidata.org/entity/Q30316651

description

2015 nî lūn-bûn

@nan

2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

Pathogenic mitochondrial mt-tR ...... ciated with isolated myopathy.

@ast

Pathogenic mitochondrial mt-tR ...... ciated with isolated myopathy.

@en

type

label

Pathogenic mitochondrial mt-tR ...... ciated with isolated myopathy.

@ast

Pathogenic mitochondrial mt-tR ...... ciated with isolated myopathy.

@en

prefLabel

Pathogenic mitochondrial mt-tR ...... ciated with isolated myopathy.

@ast

Pathogenic mitochondrial mt-tR ...... ciated with isolated myopathy.

@en

P1433

Q30316651-21FB622F-0522-4EAA-B1F9-0BF5A72A3327

P1476

Q30316651-C5428B85-29D4-4974-A517-A6A7FC0233AD

P2093

Q30316651-3C9ECE99-2685-48C0-B8C1-4B8A76D46798

Q30316651-5043AEAC-E64A-4129-8DEC-348C339257D6

Q30316651-5B1B64F4-991A-4956-82F9-C32FE551940D

Q30316651-5B95EC47-5B32-4184-AE5B-B9E463B37722

Q30316651-5BAF5939-19D9-4783-BF00-EA66DA5F721E

Q30316651-6FEF2FF4-3A38-40A2-8E84-74CDB006C448

Q30316651-7BB1A43B-C68D-43DA-9483-47CF9DAD835D

Q30316651-8F3D58DD-6F0C-49D5-A8D7-39D272C68DFB

Q30316651-984405A2-FF16-4C7F-884D-08E610CC9139

Q30316651-FE9B5CAA-8FC4-49CA-A9E3-B5C32FAA0C5B

P2860

Q30316651-01C1043C-D284-4255-8DBA-D0D12532D8AB

Q30316651-2BA85244-1187-4197-A5FD-DE01745EC8BE

Q30316651-4D6A9166-DFCC-4EA0-9258-B8748CA8BC5B

Q30316651-50B47C32-85DC-433A-B8C9-17E4F6ED9826

Q30316651-5134796A-8C74-461C-8D8B-6371B506E2AC

Q30316651-54CA3FCE-1DF7-4595-9313-684F104C39C0

Q30316651-68F34EF5-1DCE-4614-B477-2643D8749723

Q30316651-B03EEEC2-C289-415B-ADF8-B4266FBD5FC8

Q30316651-B2BAE3AC-6846-4EC5-877D-2F3108E25973

Q30316651-B60F6DC4-BA8E-44E7-A41F-277B4D726514

P2888

Q30316651-260BB0F6-33BE-482A-BC18-012983EE1B06

P304

Q30316651-40680754-A8B2-4562-8F76-29BD2E934F22

P31

Q30316651-7f6e65f4-e505-4a28-bf2a-cb3afd7fd2f8

Q30316651-F652BDCA-2470-42CB-82E2-013DB30E8D04

P356

Q30316651-0920334E-6998-4622-8249-20B695AF2F38

P433

Q30316651-0B681A7A-0C15-487A-9DA5-B707A5838B75

P478

Q30316651-B6633F04-FEDB-406F-92E0-0E2934821E24

P50

Q30316651-B3EFCF16-D49B-493C-A06A-35C707DDDC97

P577

Q30316651-70FDF64A-ED77-4845-9CB7-C03B16435D5D

P5875

Q30316651-3200D8AC-2319-4E91-B7BE-8E225B09D6B5

P698

Q30316651-C4447720-0C83-44BC-97F1-D4D9D5633712

P932

Q30316651-B65D4B63-666B-4EC8-9660-FE5C2B30D3E0

P356

P1433

European Journal of Human Genetics

P1476

Pathogenic mitochondrial mt-tR ...... ciated with isolated myopathy.

@en

P2093

Christian Bamberg

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

Diana Lehmann

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

Helen A L Tuppen

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

Karen Baty

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

Kathrin Schubert

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

Marcus Deschauer

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

Pushpa R Joshi

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

Robert W Taylor

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

Stephan Zierz

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

Steven A Hardy

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

P2860

Mitochondrial DNA mutations in human disease

Mitochondrial tRNA mutations and disease

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size.

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.

Diagnostic challenges of mitochondrial DNA disorders.

Mitochondrial DNA mutations and human disease.

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

P2888

P304

1735-1738

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

P31

scholarly article

P356

10.1038/EJHG.2015.73

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

P433

12

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

P478

23

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

P50

Emma L. Blakely

P577

2015-04-15T00:00:00Z

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

P5875

275047816

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

P698

25873012

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

P932

4519577

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