SCOPUS 정보 검색 플랫폼

Volumn 166, Issue 7, 2007, Pages 743-745

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC

(8) Jakubiczka, Sibylle a Bettecken, Thomas a,b Mohnike, Klaus a Schneppenheim, Reinhard c Stumm, Markus a,d Tönnies, Holger e Volleth, Marianne a Wieacker, Peter a

a OTTO VON GUERICKE UNIVERSITY (Germany)

b MAX PLANCK INSTITUTE OF PSYCHIATRY (Germany)

c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF (Germany)

d Zentrum fur Pranataldiagnostik (Germany)

e HUMBOLDT UNIVERSITY (Germany)

Author keywords

Deletion; Dystrophin gene; OTC deficiency

Indexed keywords

AMMONIA; CYTOCHROME B; DYSTROPHIN; GUANOSINE TRIPHOSPHATASE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; URACIL;

ABDOMINAL PAIN; ANOREXIA; ARTICLE; CASE REPORT; CHROMOSOME XP; COMPARATIVE GENOMIC HYBRIDIZATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; GENETICS; HEMIZYGOSITY; HETEROZYGOTE; HUMAN; HYPERAMMONEMIA; MENTAL DEVELOPMENT; METABOLIC DISORDER; MOLECULAR GENETICS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SOUTHERN BLOTTING; SYMPTOM; WEAKNESS;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DYSTROPHIN; EYE PROTEINS; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; MEMBRANE GLYCOPROTEINS; NADPH OXIDASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PEDIGREE;

EID: 34249061839 PISSN: 03406199 EISSN: None Source Type: Journal
DOI: 10.1007/s00431-006-0303-0 Document Type: Article

Times cited : (4)

References (4)

1
- 0026678490
- Methylation of the HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation
- Allen RC, Zoghbi HY, Mosely AB, Rosenblatt HM, Belmont JW (1992) Methylation of the HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239
- (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
- Allen, R.C.¹ Zoghbi, H.Y.² Mosely, A.B.³ Rosenblatt, H.M.⁴ Belmont, J.W.⁵

2
- 0033208661
- Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency
- Climent C, Garcia-Perez MA, Sanjurjo P, Riuz-Sanz JI, Vilaseca MA, Pineda M, Campistol J, Rubio V (1999) Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. Hum Mutat 14:352-353
- (1999) Hum Mutat , vol.14 , pp. 352-353
- Climent, C.¹ Garcia-Perez, M.A.² Sanjurjo, P.³ Riuz-Sanz, J.I.⁴ Vilaseca, M.A.⁵ Pineda, M.⁶ Campistol, J.⁷ Rubio, V.⁸

3
- 0031901847
- The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
- Suppl 1
- Tuchman M, Morizono H, Plante RJ, Allewell NM (1998) The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. J Inher Metab Dis 21(Suppl 1):40-58
- (1998) J Inher Metab Dis , vol.21 , pp. 40-58
- Tuchman, M.¹ Morizono, H.² Plante, R.J.³ Allewell, N.M.⁴

4
- 0031755412
- X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency
- Yorifuji T, Muroi J, Uematsu A, Tanaka K, Kiwaki K, Endo F, Matsuda I, Nagasaka H, Furusho K (1998) X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency. Clin Genet 54:349-353
- (1998) Clin Genet , vol.54 , pp. 349-353
- Yorifuji, T.¹ Muroi, J.² Uematsu, A.³ Tanaka, K.⁴ Kiwaki, K.⁵ Endo, F.⁶ Matsuda, I.⁷ Nagasaka, H.⁸ Furusho, K.⁹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.