Gene: [16p12/RP22] retinitis pigmentosa 22 (autosomal recessive);
|
COM |
In two families, homozygosity mapping, haplotype analysis, and linkage data mapped the disease locus (RP22) in an approximately 16-cM region between D16S287 and D16S420 on Chr 16p12. No mutation has been found by direct sequencing in the mu crystallin gene (GEM:16p1311/CRYM), which maps in the critical region (Finckh-1998)." |
|
REF |
LIN,LOC "Finckh U &: Genomics, 48, N3, 341-354, 1998 |
|
CLA |
unknown, basic |
|
LOC |
16 p12.3-.1 |
|
MIM |
MIM: 602594 |
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