Alstrom syndrome other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]

Other Diagnostic Studies

Molecular Genetic Testing

Gene	Testing Method	Detected Mutations
ALMS1	Targeted mutation analysis	19-bp insertion exon 16
ALMS1	Sequence analysis of select exons: 16, 10, and 8	Sequence variants
ALMS1	Sequence analysis of entire coding region	Sequence variants
ALMS1	Deletion / duplication analysis	Exonic and whole-genedeletions

References

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