TY  - GEN
AU  - Farrington-Rock,Claire
AU  - Firestein,Marc H
AU  - Bicknell,Louise S
AU  - Superti-Furga,Andrea
AU  - Bacino,Carlos A
AU  - Cormier-Daire,Valerie
AU  - Le Merrer,Martine
AU  - Baumann,Clarisse
AU  - Roume,Joelle
AU  - Rump,Patrick
AU  - Verheij,Joke B G M
AU  - Sweeney,Elizabeth
AU  - Rimoin,David L
AU  - Lachman,Ralph S
AU  - Robertson,Stephen P
AU  - Cohn,Daniel H
AU  - Krakow,Deborah
TI  - Mutations in two regions of FLNB result in atelosteogenesis I and III
SN  - 1098-1004
PY  - 2006///0807
KW  - Amino Acid Sequence
KW  - Contractile Proteins
KW  - chemistry
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Fetal Diseases
KW  - diagnostic imaging
KW  - Filamins
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Microfilament Proteins
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Osteochondrodysplasias
KW  - Pregnancy
KW  - Prenatal Diagnosis
KW  - Protein Structure, Tertiary
KW  - Radiography
KW  - Sequence Alignment
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20348
ER  -