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Medical Literature
Tw 41:270-272 Charles SJ, Moore AT, Yates JRW, Green T, Clark P (1990) : Alstroem 's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.
(1983): Deafness and retinitis pigmentosa [Lipoacusia nella retinite pigmentosa] Acta Otorhinolaryngologica Italica,-3-(1):63-69.
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http://www.clontech.com/clontech/atlas/genelists/7905-1_HuPlastic8K.txt
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article ID:
updated: 13/03/2002
matching:
retin pigmentosa 22 autosom recess
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MER Monclonal Antibody C-mer proto-oncogene tyrosine kinase
Search ProSci Products -- new menu (MENU_ITEMS, MENU_POS); | ProSci | Products | Antibodies | Apoptosis Antibodies | Autophagy Antibodies | Cancer Antibodies | Chemokine Antibodies | Cytokine Antibodies | Growth Factor Antibodies | Homeostasis Antibodies | Immunology Antibodies | Infectious Disease Antibodies | Innate Immunity Antibodies | Monoclonal Antibodies | Neurobiology...
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- The Jackson Laboratory
Mutations in the gene encoding the β subunit of cGMP-PDE have been found in human patients suffering from autosomal recessive retinitis pigmentosa (OMM 180072), a disorder bearing phenotypic resemblance to the mouse Pde6b rd1 phenotype.
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Kinase-Disease Associations
Mer TK Vision LOF Mut LOF mutations cause photoreceptor degeneration in retinitis pigmentosa [OMIM:268000], thought to be due to lack of clearance of apoptotic cells.
A link between RHOK and retinitis pigmentosa is now thought to be unlikely (Medline:9268593).
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Microsoft Word - 32-192.doc
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updated: 02/07/2008
matching:
retin pigmentosa autosom recess
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Genomic Instability Syndromes - R&D Systems
Genomic Instability Syndromes Syndrome Clinical Presentation Chromosomal Location Mutant gene Protein activities A-T (Ataxia telangiectasia) neurodegeneration, immunodeficiency, premature aging, radiation sensitivity, cancer 11q23 ATM protein kinase NBS (Nijmegen breakage syndrome) microcephaly and mental retardation, immunodeficiency, radiation sensitivity, cancer 8q21.3 Nbs1 BRCT...
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http://www.clontech.com/clontech/atlas/genelists/7903-1_HuGlass38I.pdf page 136
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updated: 13/03/2002
matching:
retin pigmentosa 22 autosom
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PT3699-3E (PR27547) Hu Plas 12K page 152
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author: emmachleder
updated: 22/08/2002
matching:
retin pigmentosa recess
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http://www.clontech.com/clontech/atlas/genelists/7903-1_HuGlass38I.pdf page 161
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updated: 13/03/2002
matching:
retin pigmentosa recess
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http://www.clontech.com/clontech/atlas/genelists/7905-1_HuPlastic8K.pdf page 114
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updated: 16/05/2001
matching:
retin pigmentosa recess
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Mutations Causing Inner Ear Dysfunction - The Jackson Laboratory
Dfnb59 deafness, autosomal recessive 59 homolog 2 45 - tm1Ugds R183 knock-in tm dysfunction of auditory pathway neurons Delmaghani et al.
Pax2 is included - 19 43 Krd kidney and retinal defects tg homozygous lethal Keller et al.
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Alstrom Syndrome Conference Report page 16
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author: J rgen Naggert
subject: Alstrom Syndrome Conference Report
updated: 22/03/2006
matching:
retin 22 autosom recess
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Alstrom Syndrome Conference Report page 2
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author: J rgen Naggert
subject: Alstrom Syndrome Conference Report
updated: 22/03/2006
matching:
retin 22 autosom recess
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NRL - R&D Systems
PRODUCTS RESEARCH TOPICS BROWSE BY MOLECULE TECHNICAL INFORMATION CUSTOMER SERVICE HEMATOLOGY ABOUT US Molecular Letter Listing Home | Browse by Molecule | NRL Browse By Molecule - N -: NRL Select a New Letter: 0-9 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z NRL NRL is a nuclear...
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Alstrom Syndrome Conference Report page 7
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author: J rgen Naggert
subject: Alstrom Syndrome Conference Report
updated: 22/03/2006
matching:
retin pigmentosa autosom
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PT3660-3E (PR27634) Ra Gl 3.8 I page 116
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author: emmachleder
updated: 22/08/2002
matching:
retin pigmentosa autosom
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PT3699-3E (PR27547) Hu Plas 12K page 428
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author: emmachleder
updated: 22/08/2002
matching:
retin pigmentosa autosom
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PT3699-3E (PR27547) Hu Plas 12K page 399
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author: emmachleder
updated: 22/08/2002
matching:
retin pigmentosa autosom
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New Products
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author: Promega Corporation
subject: New Products
updated: 22/04/2002
matching:
retin pigmentosa autosom
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New Products page 1
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author: Promega Corporation
subject: New Products
updated: 22/04/2002
matching:
retin pigmentosa autosom
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Gene Therapy Approaches to Neurodegenerative Disease
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author: Promega Corporation
subject: Gene Therapy Approaches to Neurodegenerative Disease
updated: 22/04/2002
matching:
retin pigmentosa autosom
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Gene Therapy Approaches to Neurodegenerative Disease page 4
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author: Promega Corporation
subject: Gene Therapy Approaches to Neurodegenerative Disease
updated: 22/04/2002
matching:
retin pigmentosa autosom
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Gene Therapy Approaches to Neurodegenerative Disease page 3
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author: Promega Corporation
subject: Gene Therapy Approaches to Neurodegenerative Disease
updated: 22/04/2002
matching:
retin pigmentosa autosom
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http://www.clontech.com/clontech/atlas/genelists/7903-1_HuGlass38I.pdf page 159
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updated: 13/03/2002
matching:
retin pigmentosa autosom
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