Targeted next-generation sequencing identifies a homozygous nonsense mutation in <it>ABHD12</it>, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

<p>Abstract</p> <p>Background</p> <p>Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive...

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Xehetasun bibliografikoak

Egile Nagusiak:	Eisenberger Tobias, Slim Rima, Mansour Ahmad, Nauck Markus, Nürnberg Gudrun, Nürnberg Peter, Decker Christian, Dafinger Claudia, Ebermann Inga, Bergmann Carsten, Bolz Hanno
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2012-09-01
Saila:	Orphanet Journal of Rare Diseases
Gaiak:	Usher syndrome Deafness Retinitis pigmentosa ABHD12 PHARC
Sarrera elektronikoa:	http://www.ojrd.com/content/7/1/59
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