SCOPUS 정보 검색 플랫폼

Volumn 31, Issue 3, 2001, Pages 255-263

Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss

(6) Badenhop, Renee F a Cherian, Sanjay b Lord, Reginald S A b Baysal, Bora E c Taschner, Peter E M d Schofield, Peter R a

a GARVAN INSTITUTE OF MEDICAL RESEARCH (Australia)

b UNIVERSITY OF NEW SOUTH WALES (Australia)

c UNIVERSITY OF PITTSBURGH MEDICAL CENTER (United States)

d LEIDEN UNIVERSITY MEDICAL CENTER (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CAROTID BODY TUMOR; DYSTONIA; EXON; FAMILIAL DISEASE; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOSITY LOSS; HUMAN; MISSENSE MUTATION; PARAGANGLIOMA; PEDIGREE; PENETRANCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; STOP CODON; TINNITUS;

ADOLESCENT; CAROTID BODY TUMOR; CHILD; CHROMOSOMES, HUMAN, PAIR 11; ELECTRON TRANSPORT COMPLEX II; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC MARKERS; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HUMANS; INTRACELLULAR MEMBRANES; LINKAGE (GENETICS); MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MITOCHONDRIA; MULTIENZYME COMPLEXES; MUTATION; OXIDOREDUCTASES; PEDIGREE; PEPTIDYL TRANSFERASES; PROTEINS; SUCCINATE DEHYDROGENASE; TINNITUS;

HUMAN ECHOVIRUS 1;

EID: 0034999087 PISSN: 10452257 EISSN: None Source Type: Journal
DOI: 10.1002/gcc.1142 Document Type: Article

Times cited : (69)

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