THE MOLECULAR-BASIS OF TYPE-I (TYROSINASE-DEFICIENT) HUMAN OCULOCUTANEOUS ALBINISM

被引：0

作者：

GIEBEL, LB ^{[1
]}

SPRITZ, RA ^{[1
]}

机构：

[1] UNIV WISCONSIN,DEPT PEDIAT,GENET LAB,MADISON,WI 53706

来源：

PIGMENT CELL RESEARCH | 1992年

关键词：

D O I：

暂无

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

引用

页码：101 / 106

页数：6

共 35 条

[1]

AULUS GELLIUS, 1952, ATTIC NIGHTS

[2]

BARTON D E, 1988, Genomics, V3, P17, DOI 10.1016/0888-7543(88)90153-X

[3]

Durham F.M., 1904, P ROY SOC LONDON, V74, P310

[4]

Garrod AE, 1908, LANCET, V2, P1

[5] RFLP FOR MBOI IN THE HUMAN TYROSINASE (TYR) GENE DETECTED BY PCR [J].

GIEBEL, LB ;

SPRITZ, RA .

NUCLEIC ACIDS RESEARCH, 1990, 18 (10) :3103-3103

[6] A TYROSINASE GENE MISSENSE MUTATION IN TEMPERATURE-SENSITIVE TYPE-I OCULOCUTANEOUS ALBINISM - A HUMAN HOMOLOG TO THE SIAMESE CAT AND THE HIMALAYAN MOUSE [J].

GIEBEL, LB ;

TRIPATHI, RK ;

KING, RA ;

SPRITZ, RA .

JOURNAL OF CLINICAL INVESTIGATION, 1991, 87 (03) :1119-1122

[7]

GIEBEL LB, 1991, AM J HUM GENET, V48, P1159

[8] ORGANIZATION AND NUCLEOTIDE-SEQUENCES OF THE HUMAN TYROSINASE GENE AND A TRUNCATED TYROSINASE-RELATED SEGMENT [J].

GIEBEL, LB ;

STRUNK, KM ;

SPRITZ, RA .

GENOMICS, 1991, 9 (03) :435-445

[9] A FREQUENT TYROSINASE GENE MUTATION IN CLASSIC, TYROSINASE-NEGATIVE (TYPE-IA) OCULOCUTANEOUS ALBINISM [J].

GIEBEL, LB ;

STRUNK, KM ;

KING, RA ;

HANIFIN, JM ;

SPRITZ, RA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (09) :3255-3258

[10] A NONSENSE MUTATION IN THE TYROSINASE GENE OF AFGHAN PATIENTS WITH TYROSINASE NEGATIVE (TYPE-IA) OCULOCUTANEOUS ALBINISM [J].

GIEBEL, LB ;

MUSARELLA, MA ;

SPRITZ, RA .

JOURNAL OF MEDICAL GENETICS, 1991, 28 (07) :464-467

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