Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B-Reference-Cited by-同舟云学术

Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B

Published:2021-03-19 Issue:5 Volume:42 Page:614-625
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Hu Jiayue¹^ORCID,Maegawa Gustavo H.B.²,Zhan Xia¹,Gao Xiaolan¹,Wang Yu¹,Xu Feng¹,Qiu Wenjuan¹,Han Lianshu¹^ORCID,Gu Xuefan¹^ORCID,Zhang Huiwen¹^ORCID

Affiliation:

1. Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research Shanghai Jiao Tong University School of Medicine Shanghai China

2. Departments of Pediatrics Genetics and Metabolism, Neuroscience, Molecular Genetics and Microbiology University of Florida Gainesville Florida USA

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24192

Reference30 articles.

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2. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1→p15.4

3. Functionalin vitro characterization of 14SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease

4. HGVS Recommendations for the Description of Sequence Variants: 2016 Update

5. Identification and Characterization of Eight Novel SMPD1 Mutations Causing Types A and B Niemann-Pick Disease

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