X-linked ocular albinism (Nettleship-Falls): A novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 239, Issue 3, 2001, Pages 167-172

  Rudolph, G ^a   Meindl, A ^a   Bechmann, M ^a   Schworm, H D ^a   Achatz, H ^a   Boergen, K P ^a   Kampik, A ^a   Berninger, T ^a   Meitinger, T ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARTICLE; CHILD; CHROMOSOME ARM; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DNA DETERMINATION; EXON; FAMILY; FEMALE; GENDER; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; INFANT; MALE; MOLECULAR GENETICS; OCULAR ALBINISM; OPHTHALMOLOGY; PRIORITY JOURNAL; SAMPLE; SINGLE STRAND CONFORMATION POLYMORPHISM; SYMPTOM; X CHROMOSOME; X CHROMOSOME LINKAGE;

ADULT; ALBINISM, OCULAR; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EVOKED POTENTIALS, VISUAL; EXONS; FEMALE; FUNDUS OCULI; HETEROZYGOTE DETECTION; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; OPHTHALMOSCOPY; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION; VISUAL ACUITY; X CHROMOSOME;

EID: 0035010990     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004170000234     Document Type: Article

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