A compound heterozygous GNPTAB mutation causes...

A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby

Gwo-Chin Ma, Yu-Yuan Ke, Shun-Ping Chang, Dong-Jay Lee, Ming Chen
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Volume:
155
Year:
2011
Language:
english
Pages:
4
DOI:
10.1002/ajmg.a.33834
File:
PDF, 419 KB
english, 2011
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