Publication
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ,
Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE,
Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A,
Glaser B, A recessive contiguous gene deletion causing infantile hyperinsulinism,
enteropathy and deafness identifies the Usher type 1C gene. Nat Genet26(1):56-60 2000 |
PubMed ID: 10973248 |
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Records Return:
(3)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM09456 | Female | 41 YR | 2165 | mother | USHER SYNDROME, TYPE IC; USH1C | GM |
GM09459 | Male | 44 YR | 2165 | father | USHER SYNDROME, TYPE IC; USH1C | GM |
GM09458 | Male | 19 YR | 2165 | proband | USHER SYNDROME, TYPE IC; USH1C | GM |
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