A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

Human Genetics

Volumn 108, Issue 2, 2001, Pages 91-97

  Boycott, K M ^a   Maybaum, T A ^a   Naylor, M J ^a   Weleber, R G ^a   Robitaille, J ^a   Miyake, Y ^a   Bergen, A A B ^a   Pierpont, M E ^a   Pearce, W G ^a   Bech Hansen, N T ^a  

^a UNIVERSITY OF CALGARY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL L TYPE; DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; FOUNDER EFFECT; GENE DELETION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOUSE; MYOPIA; NIGHT BLINDNESS; NIGHT VISION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA CELL; RNA SPLICING; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; STRABISMUS; VISUAL ACUITY; X CHROMOSOME RECESSIVE DISORDER;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CALCIUM CHANNELS; CALCIUM CHANNELS, L-TYPE; DNA, COMPLEMENTARY; HUMANS; LINKAGE (GENETICS); MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NIGHT BLINDNESS; RNA SPLICING; SEQUENCE HOMOLOGY, AMINO ACID; X CHROMOSOME;

EID: 17744371655     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100461     Document Type: Article

References (14)

1. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity
2. Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23
3. 1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
4. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
5. Integration of 101 DNA markers across human Xp11 using a panel of somatic cell hybrids
6. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness
7. Clinical variability among patients with incomplete X-linked CSNB and a founder mutation in CACNA1F
8. Positional cloning: Let's not call it reverse anymore
9. Congenital stationary night blindness: A critical review for molecular approaches
10. Congenital stationary night blindness with negative electroretinogram
11. Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness
12. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
13. Variable expressivity in X-linked congenital stationary night blindness
14. An L-type calcium-channel gene mutated in imcomplete X-linked congenital stationary night blindness