Response to restrictive dermopathy and ZMPST E24 mutations in mennonites: Evidence for allelic heterogeneity

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2142-

  Li, Chumei ^a  

^a MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

METALLOPROTEINASE; PROTEIN ZMPSTE24; UNCLASSIFIED DRUG;

CANADA; ETHNICITY; GENE MUTATION; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; LETTER; PRIORITY JOURNAL; RELIGION; SKIN DISEASE;

EID: 77955297112     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33502     Document Type: Letter

References (3)

1. Li C. 2010. Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. Am J Med Genet Part A 152A:262-263.
2. Miner J. 2010. Restrictive dermopathy and ZMPSTE24 mutations in mennonites: Evidence for allelic heterogeneity. Am J Med Genet Part A 152A(this issue).
3. Moulson CL, Go G, Gardner JM, van der Wal A, Sillevis Smitt JH, van Hagen JM, Miner JH. 2005. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol 125:913-919.