PMC Links for Protein (Select 55770850) - PMC

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Items: 2

Select item 63035321.

Juvenile onset IIH and CYP24A1 mutations

Karl P. Schlingmann, Walburga Cassar, Martin Konrad

Bone Rep. 2018 Dec; 9: 42–46. Published online 2018 Jun 21. doi: 10.1016/j.bonr.2018.06.005

Correction in:: Bone Rep. 2021 Jun; 14: 101085.

PMCID:: PMC6303532

Article PDF–287K

Select item 55098122.

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Agnieszka Janiec, Marek Wójcik, Elżbieta Rowińska, Dariusz Rokicki, Paweł Płudowski, Ewa Wojciechowska, Aldona Wierzbicka, Janusz B. Książyk, Agnieszka Jacoszek, Martin Konrad, Karl P. Schlingmann, Mieczysław Litwin

J Appl Genet. 2017; 58(3): 349–353. Published online 2017 May 3. doi: 10.1007/s13353-017-0397-2