Genetic linkage of bietti crystallin corneoretinal dystrophy to chromosome 4q35

American Journal of Human Genetics

Volumn 67, Issue 5, 2000, Pages 1309-1313

  Jiao, Xiaodong ^a   Munier, Francis L ^c   Iwata, Fumino ^a   Hayakawa, Mutsuko ^b   Kanai, Atsushi ^b   Lee, June ^a   Schorderet, Daniel F ^c   Chen, Muh Shy ^d   Kaiser Kupfer, Muriel ^a   Hejtmancik, J Fielding ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b JUNTENDO UNIVERSITY   (Japan)

^c JULES GONIN EYE HOSPITAL   (Switzerland)

^d NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIETTI CRYSTALLIN CORNEORETINAL DYSTROPHY; CHROMOSOME 4Q; CLINICAL FEATURE; DISEASE ASSOCIATION; FATTY ACID METABOLISM; GENETIC LINKAGE; HUMAN; NIGHT BLINDNESS; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA DYSTROPHY; VISUAL FIELD DEFECT;

EID: 0033764924     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9297(07)62960-7     Document Type: Article

References (9)

1. Ueber familiaeres vorkommen von 'retinitis punctata albescens' (verbunden mit 'dystrophia marginalis cristallinea corneae'), glitzern des glaskoerpers und anderen degenerativen augenveraenderungen
2. Ophthalmic genetics in China
3. Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy
4. Easy calculations of LOD scores and genetic risks on small computers
5. The metabolism of fatty acids in human Bietti crystallin dystrophy
6. Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD)
7. Autosomal dominant crystalline dystrophy
8. Exclusion of Usher syndrome gene from much of chromosome 4
9. Bietti's crystalline dystrophy: A clinicopathologic correlative study