A GPHN point mutation leading to molybdenum cofactor deficiency.

Article Details

Citation

Reiss J, Lenz U, Aquaviva-Bourdain C, Joriot-Chekaf S, Mention-Mulliez K, Holder-Espinasse M

A GPHN point mutation leading to molybdenum cofactor deficiency.

Clin Genet. 2011 Dec;80(6):598-9. doi: 10.1111/j.1399-0004.2011.01709.x.

PubMed ID
22040219 [ View in PubMed
]
Abstract

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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
GephyrinQ9NQX3Details