Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy

Jansson Ragnhild Wivestad; Berland Siren; Bredrup Cecilie; Austeng Dordi; Andreasson Sten; Wittstrom Elisabeth

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Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy

机译：BEST1基因中的双等位基因突变：常染色体隐性Bestrophinopathy的其他家庭。

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摘要

Purpose: To describe the genotype and phenotype of patients with autosomal recessive bestrophinopathy (ARB), and heterozygous carriers.

机译：目的：描述常染色体隐性最佳疾病（ARB）和杂合子携带者的基因型和表型。

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来源
《Ophthalmic genetics》 |2016年第2期|共11页
作者
Jansson Ragnhild Wivestad; Berland Siren; Bredrup Cecilie; Austeng Dordi; Andreasson Sten; Wittstrom Elisabeth;
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正文语种 eng
中图分类眼科学;
关键词
BEST1; biallelic mutations; genotype-phenotype correlations; recessive bestrophinopathy;

机译：BEST1;双等位基因突变;基因型与表型的相关性;隐性甲鱼病;

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专利

1. Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy [J] . Jansson Ragnhild Wivestad, Berland Siren, Bredrup Cecilie, Ophthalmic genetics . 2016,第2期

机译：BEST1基因中的双等位基因突变：常染色体隐性Bestrophinopathy的其他家庭。
2. NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY [J] . Fung Adrian T., Yzer Suzanne, Goldberg Naomi, Retina . 2015,第4期

机译：常染色体继发性皮肤病的新BEST1突变
3. Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation [J] . Adiv A. Johnson, Lori A. Bachman, Benjamin J. Gilles, Investigative ophthalmology & visual science . 2015,第8期

机译：常染色体隐性性骨质疏松症与新型BEST1突变患者中Bestrophin-1阴离子通道功能丧失无关。
4. Autosomal recessive hypercholesterolemia: genetics and clinical aspects [C] . Giovanni Zuliani, Renato Fellin European Symposium on Metabolism . 2003

机译：常染色体隐性高胆固醇血症：遗传学和临床方面
5. Segregation analyses in Ashkenazi Jewish families: Evidence of an additional breast cancer susceptibility gene, and evaluation of cancer risks in BRCA1/2 mutation carriers. [D] . Kaufman, David J. 2002

机译：阿什肯纳兹犹太人家庭的隔离分析：另一个乳腺癌易感基因的证据，以及BRCA1 / 2突变携带者的癌症风险评估。
6. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation [O] . Daiki Kubota, Kiyoko Gocho, Keiichiro Akeo, -1

机译：与新的BEST1突变相关的常染色体隐性隐性最佳疾病的家庭的详细分析
7. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation [O] . Daiki Kubota, Kiyoko Gocho, Keiichiro Akeo, 2016

机译：与新的BEST1突变相关的常染色体隐性隐性最佳疾病的家庭的详细分析

Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy

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