The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations (vol 19, pg 1217, 2017)

被引：1

作者：

Hikmat, Omar ^{[1
,2
]}

Tzoulis, Charalampos ^{[2
,3
]}

Chong, Wui K. ^{[4
]}

Chentouf, Latifa ^{[5
,6
]}

Klingenberg, Claus ^{[7
,8
]}

Fratter, Carl ^{[9
]}

Carr, Lucinda J. ^{[10
]}

Prabhakar, Prab ^{[10
]}

Kumaraguru, Nandhini ^{[11
]}

Gissen, Paul ^{[6
]}

Cross, J. Helen ^{[10
,12
]}

Jacques, Thomas S. ^{[13
,14
]}

Taanman, Jan-Willem ^{[15
]}

Bindoff, Laurence A. ^{[2
,3
]}

Rahman, Shamima ^{[5
,6
]}

机构：

[1] Haukeland Hosp, Dept Pediat, Bergen, Norway

[2] Univ Bergen, Dept Med Clin K1, Bergen, Norway

[3] Haukeland Hosp, Dept Neurol, Bergen, Norway

[4] Great Ormond St Hosp Children NHS Fdn Trust, Dept Radiol, London, England

[5] UCL, Great Ormond St Inst Child Hlth, Mitochondrial Res Grp, London, England

[6] Great Ormond St Hosp Children NHS Fdn Trust, Metab Unit, London, England

[7] Univ Hosp North Norway, Dept Paediat & Adolescent Med, Tromso, Norway

[8] UiT, Dept Clin Med, Paediat Res Grp, Tromso, Norway

[9] Oxford Univ Hosp NHS Fdn Trust, Oxford Med Genet Labs, Oxford, England

[10] Great Ormond St Hosp Children NHS Fdn Trust, Dept Neurol, London, England

[11] Nottingham Univ Hosp NHS Trust, Dept Paediat, Nottingham, England

[12] UCL, Great Ormond St Inst Child Hlth, Clin Neurosci, London, England

[13] UCL, Dev Biol & Canc Programme, Great Ormond St Inst Child Hlth, London, England

[14] Great Ormond St Hosp Children NHS Fdn Trust, Dept Histopathol, London, England

[15] UCL, Inst Neurol, Dept Clin Neurosci, London, England

来源：

GENETICS IN MEDICINE | 2019年 / 21卷 / 04期

关键词：

D O I：

10.1038/s41436-018-0098-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1027 / 1027

页数：1

共 7 条

[1] The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations
Hikmat, Omar
Tzoulis, Charalampos
Chong, Wui K.
Chentouf, Latifa
Klingenberg, Claus
Fratter, Carl
Carr, Lucinda J.
Prabhakar, Prab
Kumaraguru, Nandhini
Gissen, Paul
Cross, J. Helen
Jacques, Thomas S.
Taanman, Jan-Willem
Bindoff, Laurence A.
Rahman, Shamima
GENETICS IN MEDICINE, 2017, 19 (11) : 1217 - 1225
[2] Early-onset parkinsonism due to mutations in the gene for polymerase gamma (POLG1)
Davidzon, G
Mancuso, M
Ahlskog, E
Klos, K
Greene, P
Hirano, M
Di Mauro, S
NEUROLOGY, 2006, 66 (05) : A330 - A330
[3] Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations (vol 186, pg 95, 2017)
Giefer
JOURNAL OF PEDIATRICS, 2018, 203 : 468 - 469
[4] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (vol 49, pg 223, 2017)
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NATURE GENETICS, 2017, 49 (06) : 969 - 969
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BRITISH JOURNAL OF OPHTHALMOLOGY, 2019, 103 (06) : 862 - 862
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[7] Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number (vol 99, pg 860, 2016)
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He, Langping
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