7 결과
BACKGROUND OF THE INVENTION
1. Field of the Invention
The present invention relates to the fields of genetics and molecular biology. More particular the invention relates to the identification of a gene that is involved in Bardet-Biedl Syndrome (BBS), designated here as BBS1. Defects in this gene
BACKGROUND OF THE INVENTION
1. Field of the Invention
The present invention relates to the fields of genetics and molecular biology. More particular the invention relates to the identification of a gene on human chromosome 16 that is involved in Bardet-Biedl Syndrome (BBS), designated here as
BACKGROUND OF THE INVENTION
1. Field of the Invention
The present invention relates to the fields of genetics and molecular biology. More particular the invention relates to the identification of a gene on human chromosome 16 that is involved in Bardet-Biedl Syndrome (BBS), designated here as
BACKGROUND OF THE INVENTION
1. Field of the Invention
The present invention relates to the fields of genetics and molecular biology. More particular the invention relates to the identification of a gene on human chromosome 15 that is involved in Bardet-Biedl Syndrome (BBS), designated here as BBS4.
BACKGROUND OF THE INVENTION
The androgen receptor (AR) belongs to the superfamily of steroid/thyroid hormone nuclear receptors, whose other members include the estrogen receptor (ER), the progesterone receptor (PR), the glucocorticoid receptor (GR), and the mineralocorticoid receptor (MR). The AR is
BACKGROUND OF THE INVENTION
Bardet-Biedl Syndrome (BBS; OMIM 209900) is a rare, autosomal recessive disorder characterized by a multitude of signs, most prominently a progressive retinal dystrophy, post-natal obesity, polydactyly (one or more extra digits), cognitive impairment, and renal
BACKGROUND OF THE INVENTION
1. Field of the Invention
The present invention relates to the fields of genetics and molecular biology. More particular the invention relates to the identification of ADP-ribosylation factor-like 6 as being involved in Bardet-Biedl Syndrome (BBS), and designated here as