Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population-Reference-Cited by-同舟云学术

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Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population

Published:2011-09 Issue:1-2 Volume:308 Page:83-87
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Chen Tai-Heng,Tzeng Ching-Cherng,Wang Chun-Chi,Wu Shou-Mei,Chang Jan-Gowth,Yang San-Nan,Hung Chih-Hsing,Jong Yuh-Jyh

Funder

National Science Council of Taiwan

Kaohsiung Medical University Hospital

KMU-SMA

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference25 articles.

1. Genetic risk assessment in carrier testing for spinal muscular atrophy;Ogino;Am J Med Genet,2002

2. Report of international SMA consortium meeting;Munsat;Neuromuscul Disord,1992

3. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995

4. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy;Lorson;Proc Natl Acad Sci U S A,1999

5. When is a deletion not a deletion? When it is converted;Burghes;Am J Hum Genet,1997

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1. Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy;Neurology Genetics;2024-08

2. Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy;Neuromuscular Disorders;2023-05

3. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing;The American Journal of Human Genetics;2023-02

4. MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients;Egyptian Journal of Medical Human Genetics;2022-12-05

5. ComprehensiveSMN1andSMN2profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing;2022-10-21

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