A DELETION HOT-SPOT IN EXON-7 OF THE G(S)ALPHA GENE (GNAS1) IN PATIENTS WITH ALBRIGHT HEREDITARY OSTEODYSTROPHY

被引：47

作者：

YU, SH

YU, DW

HAINLINE, BE

BRENER, JL

WILSON, KA

WILSON, LC

OUDELUTTIKHUIS, ME

TREMBATH, RC

WEINSTEIN, LS

机构：

[1] NIDDKD,METAB DIS BRANCH,BETHESDA,MD 20892

[2] INDIANA UNIV,DEPT PEDIAT,INDIANAPOLIS,IN 46202

[3] NEW YORK MED COLL,METROPOLITAN HOSP,NEW YORK,NY 10029

[4] CARLE CLIN ASSOC,URBANA,IL 61801

[5] UNIV LEICESTER,DEPT MED & THERAPEUT,LEICESTER LE1 7RH,LEICS,ENGLAND

[6] UNIV LEICESTER,DEPT GENET,LEICESTER LE1 7RH,LEICS,ENGLAND

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 10期

关键词：

D O I：

10.1093/hmg/4.10.2001

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：2001 / 2002

页数：2

共 17 条

[11]

NAKAMOTO JM, 1992, 74TH ANN M END SOC, P305

[12] MUTATION IN THE GENE ENCODING THE STIMULATORY G-PROTEIN OF ADENYLATE-CYCLASE IN ALBRIGHTS HEREDITARY OSTEODYSTROPHY [J].

PATTEN, JL ;

JOHNS, DR ;

VALLE, D ;

EIL, C ;

GRUPPUSO, PA ;

STEELE, G ;

SMALLWOOD, PM ;

LEVINE, MA .

NEW ENGLAND JOURNAL OF MEDICINE, 1990, 322 (20) :1412-1419

[13] IMMUNOCHEMICAL ANALYSIS OF THE ALPHA-SUBUNIT OF THE STIMULATORY G-PROTEIN OF ADENYLYL CYCLASE IN PATIENTS WITH ALBRIGHTS HEREDITARY OSTEODYSTROPHY [J].

PATTEN, JL ;

LEVINE, MA .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1990, 71 (05) :1208-1214

[14]

SCHWINDINGER WF, 1994, J BIOL CHEM, V269, P25387

[15] MUTATIONS OF THE GS ALPHA-SUBUNIT GENE IN ALBRIGHT HEREDITARY OSTEODYSTROPHY DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS [J].

WEINSTEIN, LS ;

GEJMAN, PV ;

FRIEDMAN, E ;

KADOWAKI, T ;

COLLINS, RM ;

GERSHON, ES ;

SPIEGEL, AM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (21) :8287-8290

[16] A HETEROZYGOUS 4-BP DELETION MUTATION IN THE G(S)ALPHA GENE (GNAS1) IN A PATIENT WITH ALBRIGHT HEREDITARY OSTEODYSTROPHY [J].

WEINSTEIN, LS ;

GEJMAN, PV ;

DEMAZANCOURT, P ;

AMERICAN, N ;

SPIEGEL, AM .

GENOMICS, 1992, 13 (04) :1319-1321

[17] PARENTAL ORIGIN OF GS-ALPHA GENE-MUTATIONS IN ALBRIGHTS HEREDITARY OSTEODYSTROPHY [J].

WILSON, LC ;

LUTTIKHUIS, MEMO ;

CLAYTON, PT ;

FRASER, WD ;

TREMBATH, RC .

JOURNAL OF MEDICAL GENETICS, 1994, 31 (11) :835-839

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