Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B [4]

Clinical Genetics

Volumn 70, Issue 6, 2006, Pages 532-534

  Drera, B ^a   Zoppi, N ^a   Barlati, S ^a   Colombi, M ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; CALCIUM; FAST TWITCH SKELETAL MUSCLE TROPONIN I ISOPROTEIN; MUSCLE PROTEIN; TROPONIN I; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTHROGRYPOSIS; CASE REPORT; CLEFT PALATE; CLINICAL FEATURE; CLUBFOOT; CRYPTORCHISM; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HAND MALFORMATION; HUMAN; INTERVERTEBRAL DISK HERNIA; LETTER; MALE; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; OSTEOARTHRITIS; PHENOTYPE; PRIORITY JOURNAL; RECURRENT DISEASE; SPONDYLOLISTHESIS;

ARTHROGRYPOSIS; BASE SEQUENCE; CODON, NONSENSE; FEMALE; HUMANS; ITALY; MALE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TROPONIN I;

EID: 33751006173     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00713.x     Document Type: Letter

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