Novel nonsense mutation of ABHD5 in Dorfman–Chanarin...

European Journal of Medical Genetics 2012 Vol. 55; Iss. 3

Novel nonsense mutation of ABHD5 in Dorfman–Chanarin syndrome with unusual findings: A challenge for genotype–phenotype correlation

Shagun Aggarwal, Jaswinder Singh Maras, Seema Alam, Rajeev Khanna, Sanjeev Kumar Gupta, Arvind Ahuja
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Volume:
55
Year:
2012
Language:
english
Pages:
178
DOI:
10.1016/j.ejmg.2012.01.013
File:
PDF, 1.19 MB
english, 2012
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