Genetic mapping of Chuvash Polycythemia: An autosomal recessive disorder of oxygen sensing.

被引:0
|
作者
Stockton, DW
Chen, H
Ang, SO
Sergeyeva, AI
Gordeuk, VR
Polyakova, LA
Prchal, JT
机构
[1] Baylor Coll Med, Houston, TX 77030 USA
[2] Chuvash State Univ, Cheboksary, Russia
[3] Howard Univ, Washington, DC 20059 USA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2507
引用
收藏
页码:608 / 608
页数:1
相关论文
共 44 条
  • [21] FINE GENETIC-MAPPING OF A GENE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA ON CHROMOSOME 6P21
    SHUGART, YY
    BANERJEE, P
    KNOWLES, JA
    LEWIS, CA
    JACOBSON, SG
    MATISE, TC
    PENCHASZADEH, G
    GILLIAM, TC
    OTT, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (02) : 499 - 502
  • [22] Shadow Autozygosity Mapping by Linkage Exclusion (SAMPLE): A Simple Strategy to Identify the Genetic Basis of Lethal Autosomal Recessive Disorders
    Carr, Ian M.
    Szymanska, Katarzyna
    Sheridan, Eamonn
    Markham, Alexander F.
    Bonthron, David T.
    Johnson, Colin A.
    HUMAN MUTATION, 2009, 30 (12) : 1642 - 1649
  • [23] Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity
    Krebsová, A
    Küster, W
    Lestringant, GG
    Schulze, B
    Hinz, B
    Frossard, PM
    Reis, A
    Hennies, HC
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (01) : 216 - 222
  • [24] Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families (vol 58, pg 2218, 2017)
    Li, L.
    Chen, Y.
    Jiao, X.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (05) : 2636 - 2636
  • [25] Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes
    Umm-e-Kalsoom
    Basit, Sulman
    Naqvi, Syed Kamran-ul-Hassan
    Ansar, Muhammad
    Ahmad, Wasim
    HUMAN GENETICS, 2012, 131 (03) : 415 - 422
  • [26] Insight into the impact of genetic counselling on English and Urdu speaking Pakistani families affected with an autosomal recessive disorder living in the UK North West
    Leach, V. A.
    Khan, N.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1784 - 1784
  • [27] Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes
    Sulman Umm-e-Kalsoom
    Syed Basit
    Muhammad Kamran-ul-Hassan Naqvi
    Wasim Ansar
    Human Genetics, 2012, 131 : 415 - 422
  • [28] Focal loss of cross-striations (FLCS) in four siblings: An autosomal-recessive genetic disorder, with fatality following scoliosis surgery.
    Sabetian, K
    Engel, WK
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1996, 55 (05): : 255 - 255
  • [29] Homozygosity Mapping Through Whole Genome Analysis Identifies a COL18A1 Mutation in an Indian Family Presenting With an Autosomal Recessive Neurological Disorder
    Paisan-Ruiz, Coro
    Scopes, Geoff
    Lee, Philip
    Houlden, Henry
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2009, 150B (07) : 993 - 997
  • [30] Autosomal recessive lower motor neuron disease with childhood onset: clinical study and genetic mapping to chromosome 1p363 in an African pedigree
    Maystadt, I
    Leclair-Richard, D
    Estournet, B
    Barois, A
    Renault, F
    Routon, MC
    Durand, MC
    Lefebvre, S
    Munich, A
    Viollet, L
    Verellen-Dumoulin, C
    NEUROMUSCULAR DISORDERS, 2005, 15 (9-10) : 683 - 684