|
|
Volumn 59, Issue 5, 2001, Pages 366-367
|
|
A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I [2]
a a a |
|
Author keywords
[No Author keywords available]
|
|
Indexed keywords
CYTOSINE;
GUANINE;
THYMINE;
TRANSCRIPTION FACTOR;
TRINUCLEOTIDE;
ZINC FINGER PROTEIN;
ADULT;
ARM;
BONE DISEASE;
BRACHYDACTYLY;
CASE REPORT;
CHILD;
CLINICAL FEATURE;
CLINODACTYLY;
EPIPHYSIS;
FACE DEFORMITY;
FAMILY;
FEMALE;
FOOT RADIOGRAPHY;
GENE EXPRESSION;
GENETIC SCREENING;
GROWTH PLATE;
HAIR;
HAND RADIOGRAPHY;
HETEROZYGOSITY;
HUMAN;
JAPAN;
LETTER;
MALE;
MOTHER;
NONSENSE MUTATION;
NUCLEIC ACID BASE SUBSTITUTION;
PHILTRUM;
PRIORITY JOURNAL;
PROGENY;
SHORT STATURE;
SINGLE STRAND CONFORMATION POLYMORPHISM;
STOP CODON;
TRICHORHINOPHALANGEAL SYNDROME TYPE 1;
TRINUCLEOTIDE REPEAT;
ABNORMALITIES, MULTIPLE;
ADULT;
AMINO ACID SEQUENCE;
BASE SEQUENCE;
CHILD;
CODON, NONSENSE;
CRANIOFACIAL ABNORMALITIES;
DNA MUTATIONAL ANALYSIS;
DNA-BINDING PROTEINS;
EPIPHYSES;
FAMILY HEALTH;
FEMALE;
HAIR;
HUMANS;
JAPAN;
MALE;
NEOPLASM PROTEINS;
NUCLEAR PROTEINS;
PEDIGREE;
POINT MUTATION;
RNA, MESSENGER;
SEQUENCE HOMOLOGY, AMINO ACID;
SEQUENCE HOMOLOGY, NUCLEIC ACID;
SYNDROME;
TRANSCRIPTION FACTORS;
|
|
EID: 0035021972
PISSN: 00099163
EISSN: None
Source Type: Journal
DOI: 10.1034/j.1399-0004.2001.590513.x Document Type: Letter |
|
Times cited : (11)
|
|
References (0)
|