ライフサイエンスコーパス: Chediak-Higashi syndrome

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1 ls for human disease, including beige (human Chediak-Higashi syndrome).

2 otype seen in fibroblasts from patients with Chediak-Higashi syndrome.

3 at the small isoform alone cannot complement Chediak-Higashi syndrome.

4 homologue of the gene for the human disorder Chediak-Higashi syndrome.

5 Chediak-Higashi syndrome, a rare autosomal recessive dis

6 As mutations in LYST cause human Chediak-Higashi syndrome, a severe immunodeficiency, our

7 atients with the hereditary immunodeficiency Chediak-Higashi syndrome and in cells infected with Coxi

8 The human autosomal recessive disorder Chediak-Higashi syndrome and its murine homologue beige

9 stent with LYST being the gene for the human Chediak-Higashi Syndrome and strengthen the synteny rela

10 o the human Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, and Griscelli syndrome.

11 tropenia, leukocyte adhesion deficiency, and Chediak-Higashi syndrome) are associated with cutaneous

12 The beige and Chediak-Higashi syndrome (BEACH) domain defines a large

13 In the Chediak-Higashi syndrome cells, this correlated with mor

14 late endosome is defective in patients with Chediak-Higashi syndrome (CHS) and in mutant beige (bg)

15 Chediak-Higashi syndrome (CHS) is a rare disorder caused

16 Chediak-Higashi syndrome (CHS) is a rare, autosomal rece

17 Chediak-Higashi syndrome (CHS) is a rare, usually fatal,

18 Chediak-Higashi syndrome (CHS) is an autosomal recessive

19 mbrane resealing of fibroblasts derived from Chediak-Higashi syndrome (CHS) patients, or from beige-J

20 lysosomal trafficking regulator (LYST) cause Chediak-Higashi syndrome (CHS), a rare immunodeficiency

21 imilar multi-organellar defects occur in the Chediak-Higashi syndrome (CHS), as well as in a large nu

22 such as Hermansky-Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS).

23 o produce two alternative transcripts of the Chediak-Higashi Syndrome gene, another pigment disorder

24 or more of which may be associated with the Chediak-Higashi syndrome gene.

25 ents (85%) with Griscelli syndrome type 2 or Chediak-Higashi syndrome had abnormal resting NK-cell de

26 Clinical reports of Chediak-Higashi syndrome have identified mutations throu

27 Chediak-Higashi syndrome in man and the beige mutation o

28 Chediak-Higashi syndrome is a genetic disorder caused by

29 Chediak-Higashi syndrome is an autosomal recessive, immu

30 complemented beige cells were fused to human Chediak-Higashi syndrome or Aleutian mink fibroblasts, c

31 k for HLH that is lower than in Griscelli or Chediak-Higashi syndrome, probably because of a milder d

32 mains in common with the molecules beige and Chediak-Higashi syndrome proteins that are important for

33 tional domains of BEACH (for beige and human Chediak-Higashi syndrome) proteins, such as Rugose, mous

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