(Q43700080)

26 November 2017

title

Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome (English)

1 reference

26 November 2017

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Becker K

1

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26 November 2017

Csikós M

series ordinal

2

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26 November 2017

Horváth A

series ordinal

3

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26 November 2017

Kárpáti S

series ordinal

4

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26 November 2017

publication date

1 August 2001

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26 November 2017

published in

Experimental Dermatology

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26 November 2017

volume

10

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26 November 2017

issue

4

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26 November 2017

page(s)

286-289

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Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

26 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2001.100409.X

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2001.100409.X

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2001.100409.X

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2001.100409.X

Genetic defects in postsqualene cholesterol biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2001.100409.X

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2001.100409.X

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2001.100409.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1600-0625.2001.100409.X

1 reference

26 November 2017

1 reference