(Q28178341)

2

1 reference

Europe PubMed Central

PubMed publication ID

1279971

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1279971

8 September 2022

Y. Fukushima

3

1 reference

Europe PubMed Central

PubMed publication ID

1279971

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1279971

full work available at URL

8 September 2022

language of work or name

English

0 references

publication date

1 November 1992

0 references

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320440422

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.1320440422

20 November 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

American Journal of Medical Genetics Part A

20 November 2023

published in

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volume

44

0 references

issue

4

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page(s)

492-5

0 references

cites work

A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.

1

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

ELECTRON MICROSCOPY OF MELANOCYTES IN HUMAN PIEBALDISM

20 November 2023

2

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus

20 November 2023

3

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

cDNA cloning and expression of the human A-type platelet-derived growth factor (PDGF) receptor establishes structural similarity to the B-type PDGF receptor

20 November 2023

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Familial white skin spotting (piebaldness) ("partial albinism") with white forelock

20 November 2023

5

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Localization of the human c-kit protooncogene on the q11?q12 region of chromosome 4

20 November 2023

6

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Deletion of the c-kit protooncogene in the human developmental defect piebald trait

20 November 2023

7

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W.

20 November 2023

10

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene

20 November 2023

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

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

20 November 2023

12

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism

20 November 2023

13

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

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

20 November 2023

14

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Exon skipping by mutation of an authentic splice site of c-kit gene in W/W mouse

20 November 2023

16

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

B-F chromosome translocation associated with father-child incompatibility within the Gc-system

20 November 2023

17

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Tentative assignment of piebald trait gene to chromosome band 4q12

20 November 2023

18

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Congenital Circumscribed Hypomelanosis: A Characterization Based on Electron Microscopic Study of Tuberous Sclerosis, Nevus Depigmentosus, and Piebaldism

20 November 2023

19

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Piebald trait in a retarded child with interstitial deletion of chromosome 4

20 November 2023

21

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4

20 November 2023

22

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes

20 November 2023

23

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

A presumed deletion covering the W and Ph loci of the mouse

20 November 2023

24

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Isolation of a novel receptor cDNA establishes the existence of two PDGF receptor genes

20 November 2023

26

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Possible Localization of Gc-System on Chromosome 4. Loss of Long Arm 4 Material Associated with Father-Child Incompatibility Within the Gc-System

20 November 2023

27

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W

20 November 2023

28

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor

20 November 2023

29

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Mouse platelet-derived growth factor receptor alpha gene is deleted in W19H and patch mutations on chromosome 5

20 November 2023

32

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Detection of specific sequences among DNA fragments separated by gel electrophoresis

20 November 2023

33

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Platelet-derived growth factor receptor alpha-subunit gene (Pdgfra) is deleted in the mouse patch (Ph) mutation

20 November 2023

35

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

The Dominant W 42 Spotting Phenotype Results from a Missense Mutation in the c- kit Receptor Kinase

20 November 2023

36

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait

20 November 2023

37

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320440422

20 November 2023

Identifiers