在一个患有糖原贮积病Ia型（冯·吉尔克病）的台湾华裔家庭中鉴定出一种新的错义突变（H119L）。 - Suppr

Suppr

超能文献

A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).

作者信息

Wu M C, Tsai F J, Lee C C, Tsai C H, Wu J Y

机构信息

Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.

出版信息

Hum Mutat. 2000 Nov;16(5):447. doi: 10.1002/1098-1004(200011)16:5<447::AID-HUMU17>3.0.CO;2-M.

DOI:10.1002/1098-1004(200011)16:5<447::AID-HUMU17>3.0.CO;2-M

PMID:11058910

Abstract

摘要

相似文献

A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).在一个患有糖原贮积病Ia型（冯·吉尔克病）的台湾华裔家庭中鉴定出一种新的错义突变（H119L）。

Hum Mutat. 2000 Nov;16(5):447. doi: 10.1002/1098-1004(200011)16:5<447::AID-HUMU17>3.0.CO;2-M.

Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).在一名患有糖原贮积病Ia型（冯·吉尔克病）的葡萄牙患者的葡萄糖-6-磷酸酶基因中鉴定出一种新型无义突变（Q24X）。

Hum Mutat. 2000 Nov;16(5):449. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU25>3.0.CO;2-L.

Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).在一名患有糖原贮积病Ia型（冯·吉尔克病）的台湾华裔患者中，鉴定出葡萄糖-6-磷酸酶基因中的一种新型错义突变（T16A）。

Hum Mutat. 2000 Apr;15(4):390. doi: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU32>3.0.CO;2-N.

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.在中国一个患有糖原贮积病1b型的家庭中鉴定出葡萄糖-6-磷酸转运酶基因的一种新型错义突变（P191L）。

Hum Mutat. 2000 Jul;16(1):94. doi: 10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-Q.

Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.糖原贮积病 Ia 型患者葡萄糖-6-磷酸酶基因中三个新突变（Q54P、W70X 和 T108I）的鉴定。简讯编号 256。在线版。

Hum Mutat. 1999;14(1):91. doi: 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU21>3.0.CO;2-B.

Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene.Ia型糖原贮积病的产前诊断，葡萄糖-6-磷酸酶基因出现新突变

Prenat Diagn. 2007 Jul;27(7):685-6. doi: 10.1002/pd.1764.

Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.捷克和斯洛伐克糖原贮积病Ia型患者葡萄糖-6-磷酸酶基因突变的鉴定，包括新突变K76N、V166A和540del5。

Hum Mutat. 2000 Jul;16(1):89. doi: 10.1002/1098-1004(200007)16:1<89::AID-HUMU17>3.0.CO;2-A.

Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.台湾华裔1a型糖原贮积病的分子遗传学

Mol Genet Metab. 2001 Feb;72(2):175-80. doi: 10.1006/mgme.2000.3129.

Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.Ia型糖原贮积病：51例日本患者的分子诊断及通过分析淋巴母细胞样细胞中异位转录的mRNA对剪接突变进行特征分析

Am J Med Genet. 2000 Mar 13;91(2):107-12.

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.日本糖原贮积病Ia型患者葡萄糖-6-磷酸酶基因的异质性突变

Am J Med Genet. 2000 May 15;92(2):90-4.

引用本文的文献

The induced-fit and catalytic mechanisms of human G6PC1.人葡萄糖-6-磷酸酶催化亚基1的诱导契合和催化机制

Cell Discov. 2025 Jul 15;11(1):62. doi: 10.1038/s41421-025-00814-z.

Structural insights into glucose-6-phosphate recognition and hydrolysis by human G6PC1.人类G6PC1对6-磷酸葡萄糖识别与水解的结构见解。

Proc Natl Acad Sci U S A. 2025 Jan 28;122(4):e2418316122. doi: 10.1073/pnas.2418316122. Epub 2025 Jan 23.

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.导致Ia型糖原贮积病的葡萄糖-6-磷酸酶-α（G6PC）基因突变。

Hum Mutat. 2008 Jul;29(7):921-30. doi: 10.1002/humu.20772.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验