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| A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTS WITH X-LINKED HYPOPHOSPHATEMIC RICKETS |
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| Author(s): FRANCIS F, HENNIG S, KORN B, REINHARDT R, DEJONG P, POUSTKA A, LEHRACH H, ROWE PSN, GOULDING JN, SUMMERFIELD T, MOUNTFORD R, READ AP, POPOWSKA E, PRONICKA E, DAVIES KE, ORIORDAN JLH, ECONS MJ, NESBITT T, DREZNER MK, OUDET C, PANNETIER S, HANAUER A, STROM TM, MEINDL A, LORENZ B, CAGNOLI M, MOHNIKE KL, MURKEN J, MEITINGER T |
| Source: NATURE GENETICS Volume: 11 Issue: 2 Pages: 130-136 Published: OCT 1995 |
| Times Cited: 328 References: 47 |
| Abstract: X-linked hypophosphatemic rickets (HYP) is a dominant disorder characterised by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. By positional cloning, we have isolated a candidate gene from the HYP region in Xp22.1, This gene exhibits homology to a family of endopeptidase genes, members of which are involved in the degradation or activation of a variety of peptide hormones. This gene (which we have called PEX) is composed of multiple exons which span at least five cosmids. Intragenic non-overlapping deletions from four different families and three mutations (two splice sites and one frameshift) have been detected in HYP patients, which suggest that the PEX gene is involved in the HYP disorder. |
| Document Type: Article |
| Language: English |
Addresses:
1. MAX PLANCK INST MOLEC GENET, D-14195 BERLIN, GERMANY
2. DEUTSCH KREBSFORSCHUNGSZENTRUM, W-6900 HEIDELBERG, GERMANY
3. ROSWELL PK CANC INST, BUFFALO, NY 14263 USA
4. UCL, MIDDLESEX HOSP, DEPT MED, LONDON W1N 8AA, ENGLAND
5. UNIV MANCHESTER, DEPT MED GENET, MANCHESTER M13 0JH, LANCS ENGLAND
6. CTR ZDROWIA DZIECKA, DEPT METAB DIS, PL-04736 WARSAW, POLAND
7. UNIV OXFORD, JOHN RADCLIFFE HOSP, MOLEC GENET GRP, OXFORD OX3 9DU, ENGLAND
8. DUKE UNIV, MED CTR, DEPT MED, DURHAM, NC 27710 USA
9. IGBMC, F-67404 ILLKIRCH GRAFFENSTADEN, FRANCE
10. UNIV MUNICH, KINDER POLIKLIN, PADIAT GENET ABT, D-80336 MUNICH, GERMANY
11. OTTO VONGUERICKE UNIV, ZENTRUM KINDERHEILKUNDE, D-39112 MAGDEBURG, GERMANY |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: RX806 |
| ISSN: 1061-4036 |
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