EVIDENCE FOR X-LINKED DOMINANT INHERITANCE OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY

被引:119
|
作者
SHORT, EM
CONN, HO
SNODGRASS, PJ
CAMPBELL, AG
ROSENBERG, LE
机构
[1] YALE UNIV, SCH MED, DEPT MED, DIV MED GENET, NEW HAVEN, CT 06510 USA
[2] YALE UNIV, SCH MED, DEPT PEDIAT, NEW HAVEN, CT 06510 USA
[3] W HAVEN VET HOSP, W HAVEN, CT 06516 USA
[4] HARVARD UNIV, PETER BENT BRIGHAM HOSP, MED SCH, BOSTON, MA 02115 USA
来源
NEW ENGLAND JOURNAL OF MEDICINE | 1973年 / 288卷 / 01期
关键词
D O I
10.1056/NEJM197301042880102
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:7 / 12
页数:6
相关论文
共 50 条
  • [1] X-LINKED DOMINANT INHERITANCE OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    SHORT, EM
    ROSENBERG, LE
    SNODGRASS, PJ
    CONN, HO
    AMERICAN JOURNAL OF HUMAN GENETICS, 1972, 24 (06) : A24 - +
  • [2] EVIDENCE FOR X-LINKED INHERITANCE OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    SHORT, EM
    SNODGRASS, PJ
    ROSENBERG, LE
    CONN, HO
    JOURNAL OF CLINICAL INVESTIGATION, 1972, 51 (06): : A90 - +
  • [3] CARRIER DETECTION IN A PARTIALLY DOMINANT X-LINKED DISEASE - ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    PELET, A
    ROTIG, A
    BONAITIPELLIE, C
    RABIER, D
    CORMIER, V
    TOUMAS, E
    HENTZEN, D
    SAUDUBRAY, JM
    MUNNICH, A
    HUMAN GENETICS, 1990, 84 (02) : 167 - 171
  • [4] X-LINKED TRANSMISSION OF ORNITHINE-TRANSCARBAMYLASE DEFICIENCY
    SCOTT, CR
    TENG, CC
    GREENSHER, A
    MACE, JW
    GOODMAN, SI
    LANCET, 1972, 2 (7787): : 1148 - +
  • [5] Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency
    Komaki, S
    Matsuura, T
    Oyanagi, K
    Hoshide, R
    Kiwaki, K
    Endo, F
    Shimadzu, M
    Matsuda, I
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 69 (02): : 177 - 181
  • [6] REINTERPRETATION OF THE EVIDENCE FOR X-LINKED DOMINANT INHERITANCE OF JUVENILE PERIODONTITIS
    HART, TC
    MARAZITA, ML
    SCHENKEIN, HA
    DIEHL, SR
    JOURNAL OF PERIODONTOLOGY, 1992, 63 (03) : 169 - 173
  • [7] X-LINKED DOMINANT INHERITANCE OF PARTIAL PHOSPHORYLASE-KINASE DEFICIENCY IN MICE
    VARSANYI, M
    VRBICA, A
    HEILMEYER, LMG
    BIOCHEMICAL GENETICS, 1980, 18 (3-4) : 247 - 261
  • [8] Inheritance of most X-linked traits is not dominant or recessive, just X-linked
    Dobyns, WB
    Filauro, A
    Tomson, BN
    Chan, AS
    Ho, AW
    Ting, NT
    Oosterwijk, JC
    Ober, C
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (02): : 136 - 143
  • [9] The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked
    Dobyns, WB
    ACTA PAEDIATRICA, 2006, 95 : 11 - 15
  • [10] Giuffre-Tsukahara Syndrome: Evidence for X-Linked Dominant Inheritance and Review
    Dalal, Ashwin B.
    Sarkar, Anujit
    Priya, T. Padma
    Nandineni, Madhusudan R.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (08) : 2057 - 2060