Literature summary for 3.4.24.B15 extracted from

Gaucher, C.; Walrant-Debray, O.; Nguyen, T.M.; Esterle, L.; Garabedian, M.; Jehan, F.
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets (2009), Hum. Genet., 125, 401-411.

Search for more literature for 3.4.24.B15

Application

Application	Comment	Organism
medicine	the present genetic study of a large cohort of hypophosphatemic patients (209 patients representing 118 pedigrees) highlights the major role played by mutations in the PHEX gene as the cause of familial hypophosphatemic rickets. PHEX mutations are found in 79% of all proband	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	major role of PHEX in X-linked dominant hypophosphatemic rickets	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P78562	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	major role of PHEX in X-linked dominant hypophosphatemic rickets	Homo sapiens	?	-	?

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Release 2023.1 (January 2023)