(Q45326695)

13 December 2017

title

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects (English)

1 reference

13 December 2017

main subject

oculocutaneous albinism

1 reference

Caroline Rooryck

1

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Didier Lacombe

object named as

Didier Lacombe

4

0 references

Fanny Morice-Picard

2

object named as

Fanny Morice-Picard

1 reference

13 December 2017

Nursel H Elçioglu

3

1 reference

13 December 2017

Alain Taieb

5

1 reference

13 December 2017

Benoît Arveiler

6

1 reference

13 December 2017

publication date

1 October 2008

1 reference

Pigment Cell & Melanoma Research

13 December 2017

published in

1 reference

13 December 2017

volume

21

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13 December 2017

issue

5

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13 December 2017

page(s)

583-587

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A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.

13 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1755-148X.2008.00496.X

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1755-148X.2008.00496.X

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1755-148X.2008.00496.X

Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1755-148X.2008.00496.X

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1755-148X.2008.00496.X

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1755-148X.2008.00496.X

Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1755-148X.2008.00496.X

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1755-148X.2008.00496.X

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1755-148X.2008.00496.X

10.1111/J.1755-148X.2008.00496.X

21 January 2018

Identifiers

DOI

1 reference

13 December 2017

1 reference