Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD) - Concepedia

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Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD)

25

Citations

16

References

2012

Year

Yueping Wang, Manlong Qi, Tingting Li, Yun-Jing Zhao

Bckdhb GeneGenetic DisorderMedicineGeneticsPathogenesisNovel MutationsPathologyMolecular GeneticsDisease Gene IdentificationGenomicsClassic FormMolecular Diagnostics

References

	Year	Citations

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