Gene: [01q3/RP12] retinitis pigmentosa 12 (autosomal recessive);
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COM |
van Soest-1994 assigned the RP12 gene to Chr 1p31-32.1. Later van Soest-1996 reduced obligate RP12 region from 16cM to 5cM between the markers D1S533 and alpha 1S subunit of voltage-dependent calcium channel gene (GEM:01q32/CACNA1S). The CACNA1S and phosducin (GEM:01q3/PDC) genes were placed outside the candidate gene region." |
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MAP |
van Soest-1996 revealed the following order of markers and genes in Chr 1q31-32.1: 1q31 - D1S158 - (D1S238-D1S422/GEM:01q3/PDC - D1S533 - RP12/(GEM:01q3/F13B-D1S413) - GEM:01q32/CACNA1S - D1S477 - D1S306 - D1S53 - 1q32.1." |
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REF |
LIN,LOC "van Soest S &: CCG, 73, N1-2, 81-85, 1996 LIN,LOC "van Soest S &: Genomics, 22, N3, 499-504, 1994 |
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KEY |
eye |
|
CLA |
unknown, basic |
|
LOC |
01 q31-32.1 |
|
MIM |
MIM: 600105 |
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