Cys 618 arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted hirschsprung's disease suggesting a role for imprinting

Human Mutation

Volumn 10, Issue 2, 1997, Pages 155-159

  Peretz, Hava ^a   Luboshitsky, Rafael ^b   Baron, Ela ^c   Biton, Amnon ^d   Gershoni, Ruth ^e   Usher, Saly ^a   Grynberg, Elisheva ^a   Yakobson, Emanuel ^a   Graff, Eran ^a   Lapidot, Mordechai ^f  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b HAEMEK MEDICAL CENTER   (Israel)

^c Lyn Outpatient Clinic   (Israel)

^d Outpatient Clinic   (Israel)

^e RAMBAM MEDICAL CENTER   (Israel)

^f RABIN MEDICAL CENTER   (Israel)

Author keywords

Familial medullary thyroid carcinoma (FMTC, MTC); Hirschsprung's disease (HSCR); Parental imprinting; RET protooncogene

Indexed keywords

ARGININE; CYSTEINE; DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXTRACHROMOSOMAL INHERITANCE; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENOME IMPRINTING; HIRSCHSPRUNG DISEASE; HUMAN; JEW; MALE; MOROCCO; PRIORITY JOURNAL; PROTO ONCOGENE; THYROID MEDULLARY CARCINOMA;

ARGININE; CARCINOMA, MEDULLARY; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DROSOPHILA PROTEINS; FEMALE; GENOMIC IMPRINTING; HAPLOTYPES; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; JEWS; MALE; MOROCCO; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SEX RATIO; THYROID NEOPLASMS;

EID: 16944364217     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:2<155::AID-HUMU7>3.0.CO;2-J     Document Type: Article

References (8)

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