(Q38355812)

2 September 2017

title

Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping. (English)

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2 September 2017

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Hawa NS

1

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2 September 2017

Cockerill FJ

2

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2 September 2017

Vadher S

3

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2 September 2017

Hewison M

4

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2 September 2017

Rut AR

5

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2 September 2017

Pike JW

6

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2 September 2017

O'Riordan JL

7

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2 September 2017

Farrow SM

8

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2 September 2017

publication date

1 July 1996

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2 September 2017

published in

Clinical Endocrinology

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2 September 2017

volume

45

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2 September 2017

issue

1

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2 September 2017

page(s)

85-92

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Cloning and expression of full-length cDNA encoding human vitamin D receptor

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing th

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

The steroid and thyroid hormone receptor superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

Calcitriol-resistant rickets with alopecia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D- resistant rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

Exon definition may facilitate splice site selection in RNAs with multiple exons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

Rickets with alopecia: An inborn error of vitaminD metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1996.TB02064.X

10.1111/J.1365-2265.1996.TB02064.X

21 January 2018

Identifiers

DOI

1 reference

2 September 2017

1 reference