R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients (Q40393298)

20 September 2017

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

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Smith-Lemli-Opitz syndrome

20 September 2017

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Yoshiyuki Matsumoto

1

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20 September 2017

Ken-Ichi Morishima

2

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Akira Honda

3

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Shoji Watabe

4

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Misa Yamamoto

5

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Masayuki Hara

6

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Masaki Hasui

7

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Chikako Saito

8

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Toshimitsu Takayanagi

9

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Tsutomu Yamanaka

10

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Nakamichi Saito

11

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Hideaki Kudo

12

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Nobuhiko Okamoto

13

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Masato Tsukahara

14

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Shinya Matsuura

15

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language of work or name

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26 July 2005

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Journal of Human Genetics

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50

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7

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353-356

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https://scigraph.springernature.com/pub.10.1007/s10038-005-0267-3

20 September 2017

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cites work

Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.

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12 December 2020

Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein

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12 December 2020

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

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12 December 2020

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

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12 December 2020

Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi

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12 December 2020

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

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12 December 2020

RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations

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12 December 2020

A new face for an old syndrome

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12 December 2020

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome

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12 December 2020

Smith-Lemli-Opitz syndrome in Japan

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12 December 2020

Molecular cloning and expression of the human delta7-sterol reductase

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12 December 2020

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

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12 December 2020

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

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12 December 2020

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

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12 December 2020

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping

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12 December 2020

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

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12 December 2020

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

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12 December 2020

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome

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12 December 2020

10.1007/S10038-005-0267-3

Identifiers

DOI

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20 September 2017

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