HETEROZYGOTE DETECTION IN X-LINKED RECESSIVE INCOMPLETE ACHROMATOPSIA

被引:5
|
作者
PAGON, RA
CHATRIAN, GE
HAMER, RD
LINDBERG, KA
机构
来源
OPHTHALMIC PAEDIATRICS AND GENETICS | 1988年 / 9卷 / 01期
关键词
D O I
10.3109/13816818809031480
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:43 / 56
页数:14
相关论文
共 50 条
  • [21] AUTOSOMAL RECESSIVE INCOMPLETE ACHROMATOPSIA WITH DEUTAN LUMINOSITY
    SMITH, VC
    POKORNY, J
    NEWELL, FW
    [J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 1979, 87 (03) : 393 - 402
  • [22] Clinical and molecular characterization of autosomal recessive and X-linked incomplete congenital stationary night blindness
    Ba-Abbad, Rola
    Arno, Gavin
    Mahroo, Omar Abdul Rahman
    Michaelides, Michel
    Webster, Andrew
    Robson, Anthony G.
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [23] LIPOPROTEIN ELECTROPHORESIS IN RECESSIVE X-LINKED ICHTHYOSIS
    IBSEN, HH
    BRANDRUP, F
    BLAABJERG, O
    LYKKESFELDT, G
    [J]. ACTA DERMATO-VENEREOLOGICA, 1986, 66 (01) : 59 - 62
  • [24] X-LINKED RECESSIVE CARDIOMYOPATHY WITH ABNORMAL MITOCHONDRIA
    NEUSTEIN, HB
    LURIE, PR
    DAHMS, B
    TAKAHASHI, M
    [J]. PEDIATRICS, 1979, 64 (01) : 24 - 29
  • [25] EQUILIBRIUM FREQUENCIES IN X-LINKED RECESSIVE DISEASE
    HOLLOWAY, SM
    SMITH, C
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1973, 25 (04) : 388 - 396
  • [26] X-LINKED RECESSIVE CLEFT-PALATE
    HOLMES, LB
    [J]. PEDIATRIC RESEARCH, 1975, 9 (04) : 360 - 360
  • [27] X-LINKED RECESSIVE TORSION DYSTONIA IN THE PHILIPPINES
    KUPKE, KG
    LEE, LV
    VITERBO, GH
    ARANCILLO, J
    DONLON, T
    MULLER, U
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 36 (02): : 237 - 242
  • [28] Revealing the mysteries of X-linked recessive ichthyosis
    Traupe, H.
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2018, 179 (04) : 821 - 822
  • [29] X-LINKED RECESSIVE INHERITANCE OF ATYPICAL MONOCHROMATISM
    SPIVEY, BE
    [J]. ARCHIVES OF OPHTHALMOLOGY, 1965, 74 (03) : 327 - &
  • [30] Modelling X-linked recessive ichthyosis in vitro
    McGeoghan, F. T.
    Derwin, P.
    Caley, M.
    Donaldson, M. J.
    O'toole, E.
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2015, 135 : S62 - S62