Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease | Zendy

Yanqin You | Zendy; Yan V. Sun | Zendy; Xuchao Li | Zendy; Yali Li | Zendy; Xiaoming Wei | Zendy; Fang Chen | Zendy; Huijuan Ge | Zendy; Zhangzhang Lan | Zendy; Qian Zhu | Zendy; Ying Zhong Tang | Zendy; Shujuan Wang | Zendy; Ya Gao | Zendy; Fuman Jiang | Zendy; Jiaping Song | Zendy; Quan Shi | Zendy; Xuan Zhu | Zendy; Feng Mu | Zendy; Wei Dong | Zendy; Vince Gao | Zendy; Hui Jiang | Zendy; Xin Yi | Zendy; Wei Wang | Zendy; Zhiying Gao | Zendy

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Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease

Author(s) -

Yanqin You,

Yan V. Sun,

Xuchao Li,

Yali Li,

Xiaoming Wei,

Fang Chen,

Huijuan Ge,

Zhangzhang Lan,

Qian Zhu,

Ying Zhong Tang,

Shujuan Wang,

Ya Gao,

Fuman Jiang,

Jiaping Song,

Quan Shi,

Xuan Zhu,

Feng Mu,

Wei Dong,

Vince Gao,

Hui Jiang,

Xin Yi,

Wei Wang,

Zhiying Gao

Publication year - 2014

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.197

Subject(s) - massive parallel sequencing , maple syrup urine disease , prenatal diagnosis , dna sequencing , disease , genetics , medicine , haplotype , gene , genotype , computational biology , biology , bioinformatics , fetus , pregnancy , pathology , leucine , amino acid

This article demonstrates a prominent noninvasive prenatal approach to assist the clinical diagnosis of a single-gene disorder disease, maple syrup urine disease, using targeted sequencing knowledge from the affected family.

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