An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon-Reference-Cited by-同舟云学术

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

Published:2022-07 Issue: Volume:833 Page:146582
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Schaflinger Erich,Blatterer Jasmin,Khan Aiman Saeed,Kaufmann Lukas,Auinger Lisa,Tatrai Benjamin,Abbasi Sumra Wajid,Zeeshan Ali Muhammad,Abbasi Ansar Ahmad,Al Kaissi Ali,Petek Erwin,Wagner Klaus,Ahmad Khan Muzammil,Windpassinger Christian

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference47 articles.

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2. Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency;Agarwal;J. Invest. Med.,2006

3. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24;Ahmad;Am. J. Med. Genet.,2010

4. Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity;Ahmad;Clin. Genet.,2012

5. Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile;Alarcón;Am. J. Med. Genet. A,2019

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2. Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China;Pediatric Research;2024-01-08

3. Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons;Clinical Genetics;2023-06-04