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JCI117862
JCI117862
http://dx.doi.org/10.1172/JCI117862
Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
P356
Q34211184-A9A7544E-EF16-4FC1-A9BF-ED15598D3D1B
P356
JCI117862
http://dx.doi.org/10.1172/JCI117862