Three Novel PHEX Gene Mutations in Japanese Patients with X-Linked Hypophosphatemic Rickets View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2000-10

AUTHORS

Kohei Sato, Toshihiro Tajima, Jun Nakae, Masanori Adachi, Yumi Asakura, Katsuhiko Tachibana, Seizo Suwa, Noriyuki Katsumata, Toshiaki Tanaka, Yoshiki Hayashi, Shuji Abe, Mari Murashita, Koji Okuhara, Nozomi Shinohara, Kenji Fujieda

ABSTRACT

X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder characterized by renal phosphate wasting, abnormal vitamin D metabolism, and defects of bone mineralization. The phosphate-regulating gene on the X-chromosome (PHEX) that is defective in XLH has been cloned, and its location identified at Xp22.1. It has been recognized to be homologous to certain endopeptidases. So far, a variety of PHEX mutations have been identified mainly in European and North American patients with XLH. To analyze the molecular basis of four unrelated Japanese families with XLH, we determined the nucleotide sequence of the PHEX gene of affected members. We detected a new nonsense mutation (R198X) in exon 5, a new 3 nucleotides insertion mutation in exon 12 and a new missense mutation (L160R) in exon 5 as well as a previously reported nonsense mutation in exon 8 (R291X). These results suggest that: 1) PHEX gene mutations are responsible for XLH in Japanese patients, and 2) PHEX gene mutations are heterogeneous in the Japanese population similarly to other ethnic populations. More... »

PAGES

536

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-200010000-00019

DOI

http://dx.doi.org/10.1203/00006450-200010000-00019

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020701969

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11004247


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1203/00006450-200010000-00019'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1203/00006450-200010000-00019'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1203/00006450-200010000-00019'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1203/00006450-200010000-00019'


 

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315 schema:name Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, 2–138-4, Mutsukawa, Minami-ku, Yokohama, Japan 232
316 rdf:type schema:Organization
317 https://www.grid.ac/institutes/grid.63906.3a schema:alternateName National Center For Child Health and Development
318 schema:name Department of Endocrinology and Metabolism, National Children's Medical Research Center, 3–35-31, Taishido, Setagaya-ku, Tokyo, Japan 154
319 rdf:type schema:Organization
 




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