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Year | Number of Results |
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1997 | 2 |
2009 | 1 |
2014 | 1 |
2018 | 1 |
2024 | 0 |
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Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).
Hum Mol Genet. 1997 Apr;6(4):539-49. doi: 10.1093/hmg/6.4.539.
Hum Mol Genet. 1997.
PMID: 9097956
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
Holm IA, Huang X, Kunkel LM.
Holm IA, et al.
Am J Hum Genet. 1997 Apr;60(4):790-7.
Am J Hum Genet. 1997.
PMID: 9106524
Free PMC article.
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PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
Gaucher C, Walrant-Debray O, Nguyen TM, Esterle L, Garabédian M, Jehan F.
Gaucher C, et al.
Hum Genet. 2009 May;125(4):401-11. doi: 10.1007/s00439-009-0631-z. Epub 2009 Feb 15.
Hum Genet. 2009.
PMID: 19219621
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Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.
Yue H, Yu JB, He JW, Zhang Z, Fu WZ, Zhang H, Wang C, Hu WW, Gu JM, Hu YQ, Li M, Liu YJ, Zhang ZL.
Yue H, et al.
PLoS One. 2014 May 16;9(5):e97830. doi: 10.1371/journal.pone.0097830. eCollection 2014.
PLoS One. 2014.
PMID: 24836714
Free PMC article.
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Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
Chesher D, Oddy M, Darbar U, Sayal P, Casey A, Ryan A, Sechi A, Simister C, Waters A, Wedatilake Y, Lachmann RH, Murphy E.
Chesher D, et al.
J Inherit Metab Dis. 2018 Sep;41(5):865-876. doi: 10.1007/s10545-018-0147-6. Epub 2018 Feb 19.
J Inherit Metab Dis. 2018.
PMID: 29460029
Free PMC article.
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