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Volumn 22, Issue 6, 2007, Pages 981-986

PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets

Author keywords

Genotype; Hypophosphatemic rickets, X linked dominant; Mutation; Phenotype; PHEX

Indexed keywords

PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE;

EID: 38349194051     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2007.22.6.981     Document Type: Article
Times cited : (44)

References (20)
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    • Francis F, Hennig S, Korn B, Reinhardt R, de Jong P, Poustka A, Lehrach H, Rowe PSN, Goulding JN, Summerfield T, Mountford R, Read AP, Popowska E, Pronicka E, Davies KE, O Riordan JL, Econs MJ, Nesbitt T, Drezner MK, Oudet C, Pannetier S, Hanauer A, Strom TM, Meindl A, Lorenz B, Cagnoli B, Mohnike KL, Murken J, Meitinger T. A gene (PEX) with homologies to endopeptidases in mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 1995; 11: 130-6.
  • 4
    • 0038678168 scopus 로고    scopus 로고
    • FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization
    • Quarles LD. FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization. Am J Physiol Endocrinol Metab 2003; 285: E1-9.
    • (2003) Am J Physiol Endocrinol Metab , vol.285
    • Quarles, L.D.1
  • 7
    • 6844252284 scopus 로고    scopus 로고
    • Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboue B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Rearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Leprat F, Odent S, Toulouse C, Olopade OI, Sobol H, Tishler S, Woods CG, Robinson BG, Weber HC, Parsons R, Peacocke M, Longy M, Eng C. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998; 7: 507-15.
    • Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboue B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Rearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Leprat F, Odent S, Toulouse C, Olopade OI, Sobol H, Tishler S, Woods CG, Robinson BG, Weber HC, Parsons R, Peacocke M, Longy M, Eng C. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998; 7: 507-15.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.