Multi-organellar disorders of pigmentation: tied up in traffic

被引：33

作者：

Spritz, RA ^{[1
]}

机构：

[1] Univ Colorado, Hlth Sci Ctr, Human Med Genet Program, Denver, CO 80262 USA

来源：

CLINICAL GENETICS | 1999年 / 55卷 / 05期

关键词：

lysosomes; melanosomes; organelles; platelets; trafficking;

D O I：

10.1034/j.1399-0004.1999.550503.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：309 / 317

页数：9

共 113 条

[1] THE STORAGE POOL DEFICIENCY IN PLATELETS FROM HUMANS WITH THE CHEDIAK-HIGASHI-SYNDROME - STUDY OF 6 PATIENTS [J].

APITZCASTRO, R ;

CRUZ, MR ;

LEDEZMA, E ;

MERINO, F ;

RAMIREZDUQUE, P ;

DANGELMEIER, C ;

HOLMSEN, H .

BRITISH JOURNAL OF HAEMATOLOGY, 1985, 59 (03) :471-483

[2]

BAETZ K, 1995, J IMMUNOL, V154, P6122

[3] Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene [J].

Bailin, T ;

Oh, J ;

Feng, GH ;

Fukai, K ;

Spritz, RA .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 108 (06) :923-927

[4] Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse [J].

Barbosa, MDFS ;

Barrat, FJ ;

Tchernev, VT ;

Nguyen, QA ;

Mishra, VS ;

Colman, SD ;

Pastural, E ;

DufourcqLagelouse, R ;

Fischer, A ;

Holcombe, RF ;

Wallace, MR ;

Brandt, SJ ;

deSaintBasile, G ;

Kingsmore, SF .

HUMAN MOLECULAR GENETICS, 1997, 6 (07) :1091-1098

[5] Identification of the homologous beige and Chediak-Higashi syndrome genes [J].

Barbosa, MDFS ;

Nguyen, QA ;

Tchernev, VT ;

Ashley, JA ;

Detter, JC ;

Blaydes, SM ;

Brandt, SJ ;

Chotai, D ;

Hodgman, C ;

Solari, RCE ;

Lovett, M ;

Kingsmore, SF .

NATURE, 1996, 382 (6588) :262-265

[6]

Barrat FJ, 1996, AM J HUM GENET, V59, P625

[7]

BEDOYA V, 1971, BRIT J DERMATOL, V85, P336

[8]

Beguez-Cesar AB, 1943, B SOC CUBANA PEDIAT, V15, P900

[9]

BEJAOUI M, 1989, ARCH FR PEDIATR, V46, P733

[10] GENETICS, DEVELOPMENT, AND MALIGNANCY OF MELANOCYTES [J].

BENNETT, DC .

INTERNATIONAL REVIEW OF CYTOLOGY - A SURVEY OF CELL BIOLOGY, VOL 146, 1993, 146 :191-260

← 1 2 3 4 5 6 7 8 9 10 →