(Q68304922)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1676041%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1676041%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Molecular Analysis of an Extended Family with Type IA (Tyrosinase-Negative) Oculocutaneous Albinism (English)

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

26 October 2022

main subject

oculocutaneous albinism

1 reference

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

26 October 2022

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

26 October 2022

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

26 October 2022

author name string

W. S. Oetting

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1676041

26 October 2022

H. Y. Handoko

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1676041

26 October 2022

M. M. Mentink

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1676041

26 October 2022

A. S. Paller

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1676041

26 October 2022

J. G. White

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1676041

26 October 2022

R. A. King

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1676041

26 October 2022

language of work or name

English

0 references

publication date

1 July 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1676041%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

23 September 2019

https://api.elsevier.com/content/article/PII:S0022202X9190196W?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

https://api.elsevier.com/content/article/PII:S0022202X9190196W?httpAccept=text/plain

26 October 2022

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Journal of Investigative Dermatology

26 October 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1676041%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

97

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1676041%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1676041%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

page(s)

15-19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1676041%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1111/1523-1747.ep12477808

23 September 2019

exact match

0 references

cites work

Albinism

1

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Biochemistry of melanin formation

26 October 2022

3

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Amish albinism: a distinctive autosomal recessive phenotype

26 October 2022

7

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Minimal pigment: a new type of oculocutaneous albinism.

26 October 2022

8

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism

26 October 2022

9

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

26 October 2022

10

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.

26 October 2022

11

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism

26 October 2022

12

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism

26 October 2022

13

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

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

26 October 2022

14

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism

26 October 2022

17

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse

26 October 2022

18

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.

26 October 2022

19

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Molecular analysis of the DNA segments cross-hybridizable to the tyrosinase gene in patients affected with oculocutaneous albinism

26 October 2022

20

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

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

26 October 2022

21

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location

26 October 2022

22

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Absence of detectable chromosomal and molecular abnormalities in monozygotic twins discordant for the Wiedemann-Beckwith syndrome

26 October 2022

23

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Detection of specific sequences among DNA fragments separated by gel electrophoresis

26 October 2022

24

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

RFLP for TaqI at the human tyrosinase locus

26 October 2022

25

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

26 October 2022

27

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Characteristic sequences in the upstream region of the human tyrosinase gene

26 October 2022

28

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Molecular basis for the heterogeneity of human tyrosinase

26 October 2022

29

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

DNA sequencing with chain-terminating inhibitors

26 October 2022

30

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

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

26 October 2022

32

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

26 October 2022

33

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

Analysis of mammalian pigmentation at the molecular level

26 October 2022

34

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12477808

26 October 2022

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1676041%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

23 September 2019

0 references

1 reference