R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

Matsumoto Y, Morishima KI, Honda A, Watabe S, Yamamoto M, Hara M, Hasui M, Saito C, Takayanagi T, Yamanaka T, Saito N, Kudo H, Okamoto N, Tsukahara M, Matsuura S

Open source

DOI: 10.1007/s10038-005-0267-3
Published: 2005
Container: Journal of human genetics
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1007/s10038-005-0267-3,
  title = {R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.},
  author = {Matsumoto Y and Morishima KI and Honda A and Watabe S and Yamamoto M and Hara M and Hasui M and Saito C and Takayanagi T and Yamanaka T and Saito N and Kudo H and Okamoto N and Tsukahara M and Matsuura S},
  year = {2005},
  journal = {Journal of human genetics},
  doi = {10.1007/s10038-005-0267-3},
  url = {https://doi.org/10.1007/s10038-005-0267-3}
}

RIS

TY  - JOUR
TI  - R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
AU  - Matsumoto Y
AU  - Morishima KI
AU  - Honda A
AU  - Watabe S
AU  - Yamamoto M
AU  - Hara M
AU  - Hasui M
AU  - Saito C
AU  - Takayanagi T
AU  - Yamanaka T
AU  - Saito N
AU  - Kudo H
AU  - Okamoto N
AU  - Tsukahara M
AU  - Matsuura S
PY  - 2005
JO  - Journal of human genetics
DO  - 10.1007/s10038-005-0267-3
UR  - https://doi.org/10.1007/s10038-005-0267-3
ER  -

APA

Y, M., KI, M., A, H., S, W., M, Y., M, H., M, H., C, S., T, T., T, Y., N, S., H, K., N, O., M, T., & S, M. (2005). R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.. Journal of human genetics. https://doi.org/10.1007/s10038-005-0267-3

Source records

pubmed · retrieved 2026-09-26T14:07:50.795Z