(Q24312930)

GOA release 2020-03-11

visual perception

1 reference

GOA release 2020-03-11

1 reference

7

R A Spritz

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author name string

K Fukai

1

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S A Holmes

2

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N J Lucchese

3

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V M Siu

4

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R G Weleber

5

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R E Schnur

https://scigraph.springernature.com/pub.10.1038/ng0195-92

6

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language of work or name

English

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publication date

January 1995

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published in

Nature Genetics

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volume

9

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issue

1

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page(s)

92-5

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exact match

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cites work

The changing thermal response to endurance exercise during pregnancy

1 reference

Molecular genetics of oculocutaneous albinism

21 January 2018

1 reference

7 January 2021

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

7 January 2021

Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment

1 reference

7 January 2021

Organization and sequence of the human P gene and identification of a new family of transport proteins

1 reference

7 January 2021

An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype

1 reference

7 January 2021

A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene

1 reference

7 January 2021

De novo initiation codon mutation (ATG-->ACG) of the beta-globin gene causing beta-thalassemia in a Swiss family

1 reference

7 January 2021

RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.

1 reference

7 January 2021

Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans

1 reference

7 January 2021

A practical approach to albino diagnosis. VEP misrouting across the age span

1 reference

7 January 2021

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism

1 reference

7 January 2021