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An L1 element intronic insertion in the black-eyed white (MITF[sup mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.

Authors :
Yajima, Ichiro
Sato, Shigeru
Kimura, Takaharu
Yasumoto, Ken-ichi
Shibahara, Shigeki
Goding, Colin R.
Source :
Human Molecular Genetics; Aug99, Vol. 8 Issue 8, p1431, 12p, 6 Black and White Photographs, 12 Diagrams
Publication Year :
1999

Abstract

Examines the DNA L1 element intronic insertion in the black-eyed white gene responsible for pigmentary defects and inner ear deafness. Role of microphthalmia-associated transcription factors in the development of pigment cells; Disruption of the neural-crest-derived melanocyte development.

Details

Language :
English
ISSN :
09646906
Volume :
8
Issue :
8
Database :
Complementary Index
Journal :
Human Molecular Genetics
Publication Type :
Academic Journal
Accession number :
4473206
Full Text :
https://doi.org/10.1093/hmg/8.8.1431