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English words and Examples of Usage

Example Sentences for "autosomal "

txt Background BLM is a member of the RecQ family of DNA helicases Bloom syndrome (BS) is a rare cancer-prone autosomal recessive disorder characterized by genomic instability, immunodeficiency, infertility and small stature [ 1, 2].

[ 74 ] found mutations in the Rab27A gene in 16 patients with Griscelli's syndrome, an autosomal recessive disorder characterized by defects in skin pigmentation and T-lymphocyte and macrophage activation.

txt Background CFEOM1 is an autosomal dominant disorder that has been linked to the pericentromere of chromosome 12, flanked by marker D12S1584 on the p arm and D12S1668 on the q arm [ 1, 2].

Sarcospan is most tightly associated with the transmembrane sarcoglycan subcomplex, mutation of which causes autosomal recessive limb girdle muscular dystrophy (LGMD2C-2F) [ 7, 8, 9, 10, 11].

Analysis of the CFEOM1 critical region Based on its cytogenetic localization and expression pattern, sarcospan is a candidate gene for autosomal dominant CFEOM1.

By virtue of its genomic localization and expression in extraocular muscle, sarcospan is a candidate gene for autosomal dominant CFEOM1.

The normal staining pattern of sarcospan in the autosomal dominant CFEOM1 patient muscle indicates that the primary genetic mutation is likely to be found in another, unrelated gene.

Patients with autosomal dominant limb girdle muscular dystrophy type 1C, caused by mutations in caveolin-3 [ 19, 20], or autosomal recessive LGMD2B, caused by mutations in dysferlin, show normal dystrophin and sarcoglycan-sarcospan complex staining patterns [ 21].

glucose disposal rate at pharmacological insulin levels) was found to be determined by a co-dominantly inherited autosomal gene [ 3].

Thus far, this phenotype segregates as an autosomal recessive trait and maps to the FEOM2 locus on chromosome 11q13 [ 8 ] , and affected individuals carry homozygous mutations in ARIX [ 5 ] .

Thus far, this phenotype segregates as an autosomal dominant trait and maps to either FEOM3 on 16qter [ 7 ] or to FEOM1 [ 24 ] .

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