PMC:516044 / 140-446 JSONTXT

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    craft-sa-dev

    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syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin. We investigated the relationship between pendrin and deafness using mice that have (Slc26a4+/+) or lack a complete Slc26a4 gene (Slc26a4-/-)."}

    craft-ca-core-ex-dev

    {"project":"craft-ca-core-ex-dev","denotations":[{"id":"T144","span":{"begin":27,"end":36},"obj":"GO:0030849"},{"id":"T145","span":{"begin":118,"end":127},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T146","span":{"begin":131,"end":138},"obj":"PR_EXT:000015039"},{"id":"T147","span":{"begin":146,"end":151},"obj":"SO_EXT:sequence_coding_function"},{"id":"T148","span":{"begin":156,"end":163},"obj":"PR_EXT:000015039"},{"id":"T149","span":{"begin":206,"end":213},"obj":"PR_EXT:000015039"},{"id":"T150","span":{"begin":233,"end":237},"obj":"NCBITaxon:10088"},{"id":"T151","span":{"begin":249,"end":256},"obj":"PR_EXT:000015039"},{"id":"T152","span":{"begin":256,"end":257},"obj":"SO_EXT:normal_or_wild_type_or_present"},{"id":"T153","span":{"begin":258,"end":259},"obj":"SO_EXT:normal_or_wild_type_or_present"},{"id":"T154","span":{"begin":280,"end":287},"obj":"PR_EXT:000015039"},{"id":"T155","span":{"begin":288,"end":292},"obj":"SO_EXT:0000704"},{"id":"T156","span":{"begin":294,"end":301},"obj":"PR_EXT:000015039"},{"id":"T157","span":{"begin":301,"end":302},"obj":"SO_EXT:sequence_nullness_or_absence"},{"id":"T158","span":{"begin":303,"end":304},"obj":"SO_EXT:sequence_nullness_or_absence"}],"text":"Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin. We investigated the relationship between pendrin and deafness using mice that have (Slc26a4+/+) or lack a complete Slc26a4 gene (Slc26a4-/-)."}

    craft-ca-core-dev

    {"project":"craft-ca-core-dev","denotations":[{"id":"T81","span":{"begin":27,"end":36},"obj":"GO:0030849"},{"id":"T82","span":{"begin":131,"end":138},"obj":"PR:000015039"},{"id":"T83","span":{"begin":156,"end":163},"obj":"PR:000015039"},{"id":"T84","span":{"begin":206,"end":213},"obj":"PR:000015039"},{"id":"T85","span":{"begin":233,"end":237},"obj":"NCBITaxon:10088"},{"id":"T86","span":{"begin":249,"end":256},"obj":"PR:000015039"},{"id":"T87","span":{"begin":280,"end":287},"obj":"PR:000015039"},{"id":"T88","span":{"begin":288,"end":292},"obj":"SO:0000704"},{"id":"T89","span":{"begin":294,"end":301},"obj":"PR:000015039"}],"text":"Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin. We investigated the relationship between pendrin and deafness using mice that have (Slc26a4+/+) or lack a complete Slc26a4 gene (Slc26a4-/-)."}