Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa

Advances in Experimental Medicine and Biology

Volumn 801, Issue , 2014, Pages 165-170

  Lam, Byron L ^a   Züchner, Stephan L ^b   Dallman, Julia ^c   Wen, Rong ^a   Alfonso, Eduardo C ^a   Vance, Jeffery M ^b   Peričak Vance, Margaret A ^b  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MIAMI   (United States)

Author keywords

Ashkenazi jewish; Autosomal recessive; Dehydrodolichol diphosphate synthase (DHDDS); Genotype; Hereditary retinal degeneration; Retinitis pigmentosa; Transferrin isoelectric focusing; Whole exome sequencing

Indexed keywords

TRANSFERRIN; DEHYDRODOLICHYL DIPHOSPHATE SYNTHETASE; DOLICHOL; TRANSFERASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHEMICAL ANALYSIS; CLINICAL FEATURE; DARK ADAPTATION; DHDDS GENE; DISEASE COURSE; ELECTRORETINOGRAM; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOTE; HUMAN; ISOELECTRIC FOCUSING GEL ANALYSIS; MUTATIONAL ANALYSIS; ONSET AGE; OPHTHALMOSCOPY; PATHOGENESIS; PEDIGREE; PERIPHERAL VISION; PHOTORECEPTOR OUTER SEGMENT; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; RECESSIVE RETINITIS PIGMENTOSA; RETINITIS PIGMENTOSA; VISUAL ACUITY; VISUAL FIELD; VISUAL IMPAIRMENT; WHOLE EXOME SEQUENCING; FEMALE; GENETICS; JEW; MALE; METABOLISM; PATHOLOGY; POINT MUTATION; RECESSIVE GENE; RETINA;

ADULT; ALKYL AND ARYL TRANSFERASES; DOLICHOL; FEMALE; GENES, RECESSIVE; HUMANS; JEWS; MALE; PEDIGREE; POINT MUTATION; RETINA; RETINITIS PIGMENTOSA;

EID: 84904786148     PISSN: 00652598     EISSN: 22148019     Source Type: Book Series    
DOI: 10.1007/978-1-4614-3209-8_21     Document Type: Article

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