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Journal description
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Details for article 16 of 24 found articles
| Title: |
Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5) |
| Author: |
Kim, Hee-Jin Sohn, Kwang-Min Shy, Michael E. Krajewski, Karen M. Hwang, Miok Park, June-Hee Jang, Sue-Yon Won, Hong-Hee Choi, Byung-Ok Hong, Sung Hwa Kim, Byoung-Joon Suh, Yeon-Lim Ki, Chang-Seok Lee, Soo-Youn Kim, Sun-Hee Kim, Jong-Won |
| Appeared in: |
The American journal of human genetics |
| Paging: | Volume 81 (2007) nr. 3 pages 7 p. |
| Year: |
2007 |
| Contents: | |
| Publisher: |
The American Society of Human Genetics |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 16 of 24 found articles
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